Emerging therapeutics in Huntington's Disease
Expert Opin Emerg Drugs. 2021 Jul 28. doi: 10.1080/14728214.2021.1962285. Online ahead of print.ABSTRACTINTRODUCTION: Huntington's Disease is a neurodegenerative disease that is characterized by motor dysfunction, behavioral/psychiatric symptoms, and cognitive impairment. Because of the lack of availability of curative or disease modifying treatments, much of clinical practice in HD care to date has focused on symptomatic treatment. Recent work has created optimism surrounding possible emerging disease modifying therapeutics. HD is a developing therapeutic field with diverse and promising emerging therapies.AREAS COVERED: ...
Source: Expert Opinion on Emerging Drugs - July 28, 2021 Category: Drugs & Pharmacology Authors: Robert Wiggins Andrew Feigin Source Type: research

Neuroprotective effects of rutin on ASH neurons in Caenorhabditis elegans model of Huntington ’s disease
. (Source: Nutritional Neuroscience)
Source: Nutritional Neuroscience - July 27, 2021 Category: Nutrition Authors: Larissa Marafiga Cordeiro Marcell Valandro Soares Aline Franzen da Silva Marina Lopes Machado Fabiane Bicca Obetine Baptista T ássia Limana da Silveira Leticia Priscilla Arantes Felix Alexandre Antunes Soares Source Type: research

Gene expression profiles of myopic mouse scleral fibroblasts: a bioinformatics analysis based on single-cell RNA sequencing
CONCLUSION: The dysfunction of the scleral fibroblasts occurs in myopia through complex mechanisms involving inflammation, hypoxia, protein regulation, and ER stress-related gene expression and pathway regulation.PMID:34308861 | DOI:10.12122/j.issn.1673-4254.2021.07.18 (Source: Journal of Southern Medical University)
Source: Journal of Southern Medical University - July 26, 2021 Category: Universities & Medical Training Authors: J Yu Y Mo Source Type: research

Gene expression profiles of myopic mouse scleral fibroblasts: a bioinformatics analysis based on single-cell RNA sequencing
CONCLUSION: The dysfunction of the scleral fibroblasts occurs in myopia through complex mechanisms involving inflammation, hypoxia, protein regulation, and ER stress-related gene expression and pathway regulation.PMID:34308861 | DOI:10.12122/j.issn.1673-4254.2021.07.18 (Source: Journal of Southern Medical University)
Source: Journal of Southern Medical University - July 26, 2021 Category: Universities & Medical Training Authors: J Yu Y Mo Source Type: research

Accelerated expansion of pathogenic mitochondrial DNA heteroplasmies in Huntington’s disease [Genetics]
Mitochondrial dysfunction is found in the brain and peripheral tissues of patients diagnosed with Huntington’s disease (HD), an irreversible neurodegenerative disease of which aging is a major risk factor. Mitochondrial function is encoded by not only nuclear DNA but also DNA within mitochondria (mtDNA). Expansion of mtDNA heteroplasmies (coexistence of... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - July 23, 2021 Category: Science Authors: Yiqin Wang, Xiaoxian Guo, Kaixiong Ye, Michael Orth, Zhenglong Gu Tags: Genetics Biological Sciences Source Type: research

Disparities in Palliative Care Utilization Among Hospitalized People With Huntington Disease: A National Cross-Sectional Study
CONCLUSIONS: Among patients with HD, economic factors, depression, and serious illness-specific factors were associated with PC, and PC was associated with discharge disposition. These findings have implications for the adaptation of inpatient PC models to meet the needs of persons with HD.PMID:34291654 | DOI:10.1177/10499091211034419 (Source: The American Journal of Hospice and Palliative Care)
Source: The American Journal of Hospice and Palliative Care - July 22, 2021 Category: Palliative Care Authors: Leonard L Sokol Danny Bega Chen Yeh Benzi M Kluger Hillary D Lum Source Type: research

Disparities in Palliative Care Utilization Among Hospitalized People With Huntington Disease: A National Cross-Sectional Study
CONCLUSIONS: Among patients with HD, economic factors, depression, and serious illness-specific factors were associated with PC, and PC was associated with discharge disposition. These findings have implications for the adaptation of inpatient PC models to meet the needs of persons with HD.PMID:34291654 | DOI:10.1177/10499091211034419 (Source: The American Journal of Hospice and Palliative Care)
Source: The American Journal of Hospice and Palliative Care - July 22, 2021 Category: Palliative Care Authors: Leonard L Sokol Danny Bega Chen Yeh Benzi M Kluger Hillary D Lum Source Type: research

Impaired Cerebrovascular Reactivity in Huntington ’s Disease
In this study, we explored potential impairments of CVR in HD. Twelve gene expanded HD individuals, including both pre-symptomatic and early symptomatic HD and eleven healthy controls were administered a gas mixture targeting a 4–8 mmHg increase in CO2 relative to the end-tidal partial pressure of CO2 (PETCO2) at rest. A Hilbert Transform analysis was used to compute the cross-correlation between the time series of regional BOLD signal changes (ΔBOLD) and increased PETCO2, and to estimate the response delay of ΔBOLD relative to PETCO2. After correcting for age, we found that the cross-correlation between ...
Source: Frontiers in Physiology - July 21, 2021 Category: Physiology Source Type: research

SQSTM1/p62 droplet -mediated autophagosome formation:insights into Huntington disease
Autophagy. 2021 Jul 19:1-4. doi: 10.1080/15548627.2021.1953820. Online ahead of print.ABSTRACTHuntington disease (HD) manifests a unique macroautophagy/autophagy defect: the presense of cytosolic autophagosomes without substrates or so-called "empty" autophagosomes. It was proposed that mutant HTT (huntingtin; mHTT) disrupts cargo recognition by the selective autophagy receptor SQSTM1/p62 thus leading to the failure of cargo sequestration by phagophores, the precursors to autophagosomes. Here we looked at recent discoveries that liquid-like SQSTM1 droplets can serve as platforms for autophagosome formation, and d...
Source: Autophagy - July 20, 2021 Category: Cytology Authors: Junsheng Yang Xiaoli Chen Huilin Xu Source Type: research

SQSTM1/p62 droplet -mediated autophagosome formation:insights into Huntington disease
Autophagy. 2021 Jul 19:1-4. doi: 10.1080/15548627.2021.1953820. Online ahead of print.ABSTRACTHuntington disease (HD) manifests a unique macroautophagy/autophagy defect: the presense of cytosolic autophagosomes without substrates or so-called "empty" autophagosomes. It was proposed that mutant HTT (huntingtin; mHTT) disrupts cargo recognition by the selective autophagy receptor SQSTM1/p62 thus leading to the failure of cargo sequestration by phagophores, the precursors to autophagosomes. Here we looked at recent discoveries that liquid-like SQSTM1 droplets can serve as platforms for autophagosome formation, and d...
Source: Autophagy - July 20, 2021 Category: Cytology Authors: Junsheng Yang Xiaoli Chen Huilin Xu Source Type: research

[ASAP] Novel Substituted Heterocyclic and Heteroaryl Compounds for Treating Huntington ’s Disease
ACS Medicinal Chemistry LettersDOI: 10.1021/acsmedchemlett.1c00356 (Source: ACS Medicinal Chemistry Letters)
Source: ACS Medicinal Chemistry Letters - July 20, 2021 Category: Chemistry Authors: Ram W. Sabnis Source Type: research

Neurobiological and Psychosocial Correlates of Communication Between Huntington's Disease Patients and Their Offspring
CONCLUSIONS: These findings have potential implications for clinical interventions to enhance communication and quality of life for HD families.PMID:34280320 | DOI:10.1176/appi.neuropsych.20120309 (Source: Journal of Neuropsychiatry and Clinical Neurosciences)
Source: Journal of Neuropsychiatry and Clinical Neurosciences - July 19, 2021 Category: Psychiatry Authors: Kelly H Watson Abagail E Ciriegio Anna C Pfalzer Lisa Hale Maile T Jones Brittany Brown Victoria Grice Sarah Moroz Katherine E McDonell Daniel O Claassen Bruce E Compas Source Type: research

Early impairment of thalamocortical circuit activity and coherence in a mouse model of Huntington's disease
Neurobiol Dis. 2021 Jul 15:105447. doi: 10.1016/j.nbd.2021.105447. Online ahead of print.ABSTRACTHuntington's disease (HD) is a progressive, fatal neurodegenerative disorder characterized by motor, cognitive, and psychiatric disturbances. There is no known cure for HD, but its progressive nature allows for early therapeutic intervention. Currently, much of the research has focused on the striatum, however, there is evidence suggesting that disruption of thalamocortical circuits could underlie some of the early symptoms of HD. Loss of both cortical pyramidal neurons (CPNs) and thalamic neurons occurs in HD patients, and cog...
Source: Neurobiology of Disease - July 18, 2021 Category: Neurology Authors: Justin L Shobe Elissa J Donzis Kwang Lee Samiksha Chopra Sotiris C Masmanidis Carlos Cepeda Michael S Levine Source Type: research

Early impairment of thalamocortical circuit activity and coherence in a mouse model of Huntington's disease
Neurobiol Dis. 2021 Jul 15:105447. doi: 10.1016/j.nbd.2021.105447. Online ahead of print.ABSTRACTHuntington's disease (HD) is a progressive, fatal neurodegenerative disorder characterized by motor, cognitive, and psychiatric disturbances. There is no known cure for HD, but its progressive nature allows for early therapeutic intervention. Currently, much of the research has focused on the striatum, however, there is evidence suggesting that disruption of thalamocortical circuits could underlie some of the early symptoms of HD. Loss of both cortical pyramidal neurons (CPNs) and thalamic neurons occurs in HD patients, and cog...
Source: Neurobiology of Disease - July 18, 2021 Category: Neurology Authors: Justin L Shobe Elissa J Donzis Kwang Lee Samiksha Chopra Sotiris C Masmanidis Carlos Cepeda Michael S Levine Source Type: research

An unusual presentation of Huntington ’s disease
We describe the case of a 59-year-old woman who exhibited psychotic symptoms, cognitive dysfunction, and restlessness. While the clinical picture and 18F-FDG PET/CT suggested the presence of a tauopathy, especially frontotemporal dementia or progressive supranuclear palsy, genetic testing eventually revealed Huntington's disease. AbstractWe describe the case of a 59-year-old woman who exhibited psychotic symptoms, cognitive dysfunction, and restlessness. While the clinical picture and 18F-FDG PET/CT suggested the presence of a tauopathy, especially frontotemporal dementia or progressive supranuclear palsy, genetic testing ...
Source: Clinical Case Reports - July 18, 2021 Category: General Medicine Authors: Martin Schulze Westhoff, Alma Osmanovic, Catharina Meissner, Johannes Heck, Nima Mahmoudi, Corinna Hendrich, Georg Berding, Johanna Seifert, Stefan Bleich, Helge Frieling, Tillmann Kr üger, Adrian Groh Tags: CASE REPORT Source Type: research

Glutamate metabolism and recycling at the excitatory synapse in health and neurodegeneration
Neuropharmacology. 2021 Jul 14:108719. doi: 10.1016/j.neuropharm.2021.108719. Online ahead of print.ABSTRACTGlutamate is the primary excitatory neurotransmitter of the brain. Cellular homeostasis of glutamate is of paramount importance for normal brain function and relies on an intricate metabolic collaboration between neurons and astrocytes. Glutamate is extensively recycled between neurons and astrocytes in a process known as the glutamate-glutamine cycle. The recycling of glutamate is closely linked to brain energy metabolism and is essential to sustain glutamatergic neurotransmission. However, a considerable amount of ...
Source: Neuropharmacology - July 17, 2021 Category: Drugs & Pharmacology Authors: Jens V Andersen Kia H Markussen Emil Jakobsen Arne Schousboe Helle S Waagepetersen Paul A Rosenberg Blanca I Aldana Source Type: research

Glutamate metabolism and recycling at the excitatory synapse in health and neurodegeneration
Neuropharmacology. 2021 Jul 14:108719. doi: 10.1016/j.neuropharm.2021.108719. Online ahead of print.ABSTRACTGlutamate is the primary excitatory neurotransmitter of the brain. Cellular homeostasis of glutamate is of paramount importance for normal brain function and relies on an intricate metabolic collaboration between neurons and astrocytes. Glutamate is extensively recycled between neurons and astrocytes in a process known as the glutamate-glutamine cycle. The recycling of glutamate is closely linked to brain energy metabolism and is essential to sustain glutamatergic neurotransmission. However, a considerable amount of ...
Source: Neuropharmacology - July 17, 2021 Category: Drugs & Pharmacology Authors: Jens V Andersen Kia H Markussen Emil Jakobsen Arne Schousboe Helle S Waagepetersen Paul A Rosenberg Blanca I Aldana Source Type: research

Withaferin A Induces Heat Shock Response and Ameliorates Disease Progression in a Mouse Model of Huntington ’s Disease
AbstractImpairment of proteostasis network is one of the characteristic features of many age-related neurodegenerative disorders including autosomal dominantly inherited Huntington ’s disease (HD). In HD, N-terminal portion of mutant huntingtin protein containing expanded polyglutamine repeats accumulates as inclusion bodies and leads to progressive deterioration of various cellular functioning including proteostasis network. Here we report that Withaferin A (a small bioacti ve molecule derived from Indian medicinal plant,Withania somnifera) partially rescues defective proteostasis by activating heat shock response (...
Source: Molecular Neurobiology - July 15, 2021 Category: Neurology Source Type: research

Modeling Manifest Huntington ’s Disease Prevalence Using Diagnosed Incidence and Survival Time
Conclusion: The modeled estimates generally accord with the previously published data. This analysis contributes to better understanding of the epidemiology of HD and highlights areas of uncertainty.Neuroepidemiology (Source: Neuroepidemiology)
Source: Neuroepidemiology - July 15, 2021 Category: Epidemiology Source Type: research

Utility of Huntington's Disease Assessments by Disease Stage: Floor/Ceiling Effects
Discussion: Developing instruments sensitive to subtle differences in performance at the earlier stages of the disease spectrum, particularly in motor and function domains, is warranted. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - July 15, 2021 Category: Neurology Source Type: research

Accumulation of Endogenous Mutant Huntingtin in Astrocytes Exacerbates Neuropathology of Huntington Disease in Mice
AbstractSelective neuronal accumulation of misfolded proteins is a key step toward neurodegeneration in a wide range of neurodegenerative diseases, including Huntington ’s (HD) diseases. Our recent studies suggest that Hsp70-binding protein 1 (HspBP1), an Hsp70/CHIP inhibitor that reduces protein folding, is highly expressed in neuronal cells and accounts for the accumulation of the HD protein huntingtin (HTT) in neuronal cells. To further determine the role of H spBP1 in regulation of mutant protein accumulation, we investigated whether increasing expression of HspBP1 in glial cells can also induce the accumulation ...
Source: Molecular Neurobiology - July 12, 2021 Category: Neurology Source Type: research

Macromolecular crowding in solution alters huntingtin interaction and aggregation at interfaces
Colloids Surf B Biointerfaces. 2021 Jul 7;206:111969. doi: 10.1016/j.colsurfb.2021.111969. Online ahead of print.ABSTRACTHuntington's disease (HD) is a fatal neurodegenerative disease caused by an extended polyglutamine (polyQ) domain within the first exon of the huntingtin protein (htt). PolyQ expansion directly invokes the formation of a heterogenous mixture of toxic htt aggregates, including fibrils and oligomers. While htt is a cytosolic protein, it also associates with numerous membranous surfaces within the cell, leading to altered organelle morphology and dysfunction. Here, the impact of macromolecular crowding on h...
Source: Colloids and Surfaces - July 11, 2021 Category: Biotechnology Authors: Sharon E Groover Adewale Adegbuyiro Caleb K Fan Breanna L Hodges Maryssa Beasley Katelyn Taylor Alyssa R Stonebraker Chathuranga Siriwardhana Justin Legleiter Source Type: research

Association between one-year patient outcomes and opioid-prescribing group of emergency department clinicians: a cohort study with Army active duty soldiers
Acad Emerg Med. 2021 Jul 10. doi: 10.1111/acem.14331. Online ahead of print.ABSTRACTOBJECTIVE: To examine the association between clinicians' opioid-prescribing group and patients' outcomes among patients treated in the emergency department (ED).DESIGN: Retrospective cohort study.SETTING: EDs of the US Military Health System (MHS).PATIENTS: 181,557 Army active-duty opioid-naïve (no fill in past 180 days) patients with an index encounter to the ED between October 2010 and September 2016.EXPOSURE: Patients classified by opioid-prescribing tier of the treating ED clinician: top-, middle- or bottom-third relative to the c...
Source: Accident and Emergency Nursing - July 10, 2021 Category: Emergency Medicine Authors: Mark R Bauer Mary Jo Larson Natalie Moresco Nick Huntington Regine Walker Patrick Richard Source Type: research

Association between one-year patient outcomes and opioid-prescribing group of emergency department clinicians: a cohort study with Army active duty soldiers
Acad Emerg Med. 2021 Jul 10. doi: 10.1111/acem.14331. Online ahead of print.ABSTRACTOBJECTIVE: To examine the association between clinicians' opioid-prescribing group and patients' outcomes among patients treated in the emergency department (ED).DESIGN: Retrospective cohort study.SETTING: EDs of the US Military Health System (MHS).PATIENTS: 181,557 Army active-duty opioid-naïve (no fill in past 180 days) patients with an index encounter to the ED between October 2010 and September 2016.EXPOSURE: Patients classified by opioid-prescribing tier of the treating ED clinician: top-, middle- or bottom-third relative to the c...
Source: Accident and Emergency Nursing - July 10, 2021 Category: Emergency Medicine Authors: Mark R Bauer Mary Jo Larson Natalie Moresco Nick Huntington Regine Walker Patrick Richard Source Type: research

Extending the spectrum of non-motor symptoms with olfaction in pre-motor Huntington ’s disease – a pilot study
(Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - July 9, 2021 Category: Neurology Source Type: research

Insights into the Mechanism of the Therapeutic Potential of Herbal Monoamine Oxidase Inhibitors in Neurological Diseases
Curr Drug Targets. 2021 Jul 7. doi: 10.2174/1389450122666210707120256. Online ahead of print.ABSTRACTMonoamine oxidase (MAO) is an enzyme that catalyzes the deamination of monoamines and other proteins. MAO's hyperactivation results in the massive generation of reactive oxygen species, which leads to a variety of neurological diseases such as Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, Huntington's disease, and depression-like disorders. Although synthetic MAO inhibitors are clinically available, they are associated with side effects such as hepatotoxicity, cheese reaction, hypertensive crisis,...
Source: Current Drug Targets - July 9, 2021 Category: Drugs & Pharmacology Authors: Ashi Mannan Thakur Gurjeet Singh Varinder Singh Nikhil Garg Amarjot Kaur Manjinder Singh Source Type: research

Targeting autophagy in disease: established and new strategies
Autophagy. 2021 Jul 9:1-23. doi: 10.1080/15548627.2021.1936359. Online ahead of print.ABSTRACTMacroautophagy/autophagy is an evolutionarily conserved pathway responsible for clearing cytosolic aggregated proteins, damaged organelles or invading microorganisms. Dysfunctional autophagy leads to pathological accumulation of the cargo, which has been linked to a range of human diseases, including neurodegenerative diseases, infectious and autoimmune diseases and various forms of cancer. Cumulative work in animal models, application of genetic tools and pharmacologically active compounds, has suggested the potential therapeutic...
Source: Autophagy - July 9, 2021 Category: Cytology Authors: Muhammed Kocak Saba Ezazi Erdi Guillem Jorba In és Maestro Judith Farr és Vladimir Kirkin Ana Martinez Ole Pless Source Type: research

Insights into the Mechanism of the Therapeutic Potential of Herbal Monoamine Oxidase Inhibitors in Neurological Diseases
Curr Drug Targets. 2021 Jul 7. doi: 10.2174/1389450122666210707120256. Online ahead of print.ABSTRACTMonoamine oxidase (MAO) is an enzyme that catalyzes the deamination of monoamines and other proteins. MAO's hyperactivation results in the massive generation of reactive oxygen species, which leads to a variety of neurological diseases such as Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, Huntington's disease, and depression-like disorders. Although synthetic MAO inhibitors are clinically available, they are associated with side effects such as hepatotoxicity, cheese reaction, hypertensive crisis,...
Source: Current Drug Targets - July 9, 2021 Category: Drugs & Pharmacology Authors: Ashi Mannan Thakur Gurjeet Singh Varinder Singh Nikhil Garg Amarjot Kaur Manjinder Singh Source Type: research

Targeting autophagy in disease: established and new strategies
Autophagy. 2021 Jul 9:1-23. doi: 10.1080/15548627.2021.1936359. Online ahead of print.ABSTRACTMacroautophagy/autophagy is an evolutionarily conserved pathway responsible for clearing cytosolic aggregated proteins, damaged organelles or invading microorganisms. Dysfunctional autophagy leads to pathological accumulation of the cargo, which has been linked to a range of human diseases, including neurodegenerative diseases, infectious and autoimmune diseases and various forms of cancer. Cumulative work in animal models, application of genetic tools and pharmacologically active compounds, has suggested the potential therapeutic...
Source: Autophagy - July 9, 2021 Category: Cytology Authors: Muhammed Kocak Saba Ezazi Erdi Guillem Jorba In és Maestro Judith Farr és Vladimir Kirkin Ana Martinez Ole Pless Source Type: research

Insights into the Mechanism of the Therapeutic Potential of Herbal Monoamine Oxidase Inhibitors in Neurological Diseases
Curr Drug Targets. 2021 Jul 7. doi: 10.2174/1389450122666210707120256. Online ahead of print.ABSTRACTMonoamine oxidase (MAO) is an enzyme that catalyzes the deamination of monoamines and other proteins. MAO's hyperactivation results in the massive generation of reactive oxygen species, which leads to a variety of neurological diseases such as Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, Huntington's disease, and depression-like disorders. Although synthetic MAO inhibitors are clinically available, they are associated with side effects such as hepatotoxicity, cheese reaction, hypertensive crisis,...
Source: Current Drug Targets - July 9, 2021 Category: Drugs & Pharmacology Authors: Ashi Mannan Thakur Gurjeet Singh Varinder Singh Nikhil Garg Amarjot Kaur Manjinder Singh Source Type: research

Targeting autophagy in disease: established and new strategies
Autophagy. 2021 Jul 9:1-23. doi: 10.1080/15548627.2021.1936359. Online ahead of print.ABSTRACTMacroautophagy/autophagy is an evolutionarily conserved pathway responsible for clearing cytosolic aggregated proteins, damaged organelles or invading microorganisms. Dysfunctional autophagy leads to pathological accumulation of the cargo, which has been linked to a range of human diseases, including neurodegenerative diseases, infectious and autoimmune diseases and various forms of cancer. Cumulative work in animal models, application of genetic tools and pharmacologically active compounds, has suggested the potential therapeutic...
Source: Autophagy - July 9, 2021 Category: Cytology Authors: Muhammed Kocak Saba Ezazi Erdi Guillem Jorba In és Maestro Judith Farr és Vladimir Kirkin Ana Martinez Ole Pless Source Type: research

Insights into the Mechanism of the Therapeutic Potential of Herbal Monoamine Oxidase Inhibitors in Neurological Diseases
Curr Drug Targets. 2021 Jul 7. doi: 10.2174/1389450122666210707120256. Online ahead of print.ABSTRACTMonoamine oxidase (MAO) is an enzyme that catalyzes the deamination of monoamines and other proteins. MAO's hyperactivation results in the massive generation of reactive oxygen species, which leads to a variety of neurological diseases such as Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, Huntington's disease, and depression-like disorders. Although synthetic MAO inhibitors are clinically available, they are associated with side effects such as hepatotoxicity, cheese reaction, hypertensive crisis,...
Source: Current Drug Targets - July 9, 2021 Category: Drugs & Pharmacology Authors: Ashi Mannan Thakur Gurjeet Singh Varinder Singh Nikhil Garg Amarjot Kaur Manjinder Singh Source Type: research

Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants
This study made it clear that research participants want to make autonomous decisions on the disclosure or non-disclosure of their results. While the motivations for participants ’ decisions were very diverse, we were able to identify several common criteria that had a strong influence on their choices. Providing information on these factors is crucial to enable participants to make truly informed decisions. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - July 9, 2021 Category: Genetics & Stem Cells Source Type: research

Huntington's Chorea-a Rare Neurodegenerative Autosomal Dominant Disease: Insight into Molecular Genetics, Prognosis and Diagnosis
Appl Biochem Biotechnol. 2021 Jul 7. doi: 10.1007/s12010-021-03523-x. Online ahead of print.ABSTRACTHuntington's disease is a neurodegenerative autosomal disease results due to expansion of polymorphic CAG repeats in the huntingtin gene. Phosphorylation of the translation initiation factor 4E-BP results in the alteration of the translation control leading to unwanted protein synthesis and neuronal function. Consequences of mutant huntington (mhtt) gene transcription are not well known. Variability of age of onset is an important factor of Huntington's disease separating adult and juvenile types. The factors which are taken...
Source: Applied Biochemistry and Biotechnology - July 8, 2021 Category: Biochemistry Authors: Pratik Talukder Annapurna Jana Shrirupa Dhar Saikat Ghosh Source Type: research

Huntington's Chorea-a Rare Neurodegenerative Autosomal Dominant Disease: Insight into Molecular Genetics, Prognosis and Diagnosis
Appl Biochem Biotechnol. 2021 Jul 7. doi: 10.1007/s12010-021-03523-x. Online ahead of print.ABSTRACTHuntington's disease is a neurodegenerative autosomal disease results due to expansion of polymorphic CAG repeats in the huntingtin gene. Phosphorylation of the translation initiation factor 4E-BP results in the alteration of the translation control leading to unwanted protein synthesis and neuronal function. Consequences of mutant huntington (mhtt) gene transcription are not well known. Variability of age of onset is an important factor of Huntington's disease separating adult and juvenile types. The factors which are taken...
Source: Applied Biochemistry and Biotechnology - July 8, 2021 Category: Biochemistry Authors: Pratik Talukder Annapurna Jana Shrirupa Dhar Saikat Ghosh Source Type: research

Mild Cognitive Impairment as an Early Landmark in Huntington's Disease
As one of the clinical triad in Huntington's disease (HD), cognitive impairment has not been widely accepted as a disease stage indicator in HD literature. This work aims to study cognitive impairment thoroughly for prodromal HD individuals with the data from a 12-year observational study to determine whether Mild Cognitive Impairment (MCI) in HD gene-mutation carriers is a defensible indicator of early disease. Prodromal HD gene-mutation carriers evaluated annually at one of 32 worldwide sites from September 2002 to April 2014 were evaluated for MCI in six cognitive domains. Linear mixed-effects models were used to determ...
Source: Frontiers in Neurology - July 7, 2021 Category: Neurology Source Type: research

Exploring amyloid oligomers with peptide model systems
Curr Opin Chem Biol. 2021 Jul 3;64:106-115. doi: 10.1016/j.cbpa.2021.05.004. Online ahead of print.ABSTRACTThe assembly of amyloidogenic peptides and proteins, such as the β-amyloid peptide, α-synuclein, huntingtin, tau, and islet amyloid polypeptide, into amyloid fibrils and oligomers is directly linked to amyloid diseases, such as Alzheimer's, Parkinson's, and Huntington's diseases, frontotemporal dementias, and type II diabetes. Although amyloid oligomers have emerged as especially important in amyloid diseases, high-resolution structures of the oligomers formed by full-length amyloidogenic peptides and prote...
Source: Current Opinion in Chemical Biology - July 6, 2021 Category: Biochemistry Authors: Tuan D Samdin Adam G Kreutzer James S Nowick Source Type: research

Exploring amyloid oligomers with peptide model systems
Curr Opin Chem Biol. 2021 Jul 3;64:106-115. doi: 10.1016/j.cbpa.2021.05.004. Online ahead of print.ABSTRACTThe assembly of amyloidogenic peptides and proteins, such as the β-amyloid peptide, α-synuclein, huntingtin, tau, and islet amyloid polypeptide, into amyloid fibrils and oligomers is directly linked to amyloid diseases, such as Alzheimer's, Parkinson's, and Huntington's diseases, frontotemporal dementias, and type II diabetes. Although amyloid oligomers have emerged as especially important in amyloid diseases, high-resolution structures of the oligomers formed by full-length amyloidogenic peptides and prote...
Source: Current Opinion in Chemical Biology - July 6, 2021 Category: Biochemistry Authors: Tuan D Samdin Adam G Kreutzer James S Nowick Source Type: research

Exploring amyloid oligomers with peptide model systems
Curr Opin Chem Biol. 2021 Jul 3;64:106-115. doi: 10.1016/j.cbpa.2021.05.004. Online ahead of print.ABSTRACTThe assembly of amyloidogenic peptides and proteins, such as the β-amyloid peptide, α-synuclein, huntingtin, tau, and islet amyloid polypeptide, into amyloid fibrils and oligomers is directly linked to amyloid diseases, such as Alzheimer's, Parkinson's, and Huntington's diseases, frontotemporal dementias, and type II diabetes. Although amyloid oligomers have emerged as especially important in amyloid diseases, high-resolution structures of the oligomers formed by full-length amyloidogenic peptides and prote...
Source: Current Opinion in Chemical Biology - July 6, 2021 Category: Biochemistry Authors: Tuan D Samdin Adam G Kreutzer James S Nowick Source Type: research

Exploring amyloid oligomers with peptide model systems
Curr Opin Chem Biol. 2021 Jul 3;64:106-115. doi: 10.1016/j.cbpa.2021.05.004. Online ahead of print.ABSTRACTThe assembly of amyloidogenic peptides and proteins, such as the β-amyloid peptide, α-synuclein, huntingtin, tau, and islet amyloid polypeptide, into amyloid fibrils and oligomers is directly linked to amyloid diseases, such as Alzheimer's, Parkinson's, and Huntington's diseases, frontotemporal dementias, and type II diabetes. Although amyloid oligomers have emerged as especially important in amyloid diseases, high-resolution structures of the oligomers formed by full-length amyloidogenic peptides and prote...
Source: Current Opinion in Chemical Biology - July 6, 2021 Category: Biochemistry Authors: Tuan D Samdin Adam G Kreutzer James S Nowick Source Type: research

Exploring amyloid oligomers with peptide model systems
Curr Opin Chem Biol. 2021 Jul 3;64:106-115. doi: 10.1016/j.cbpa.2021.05.004. Online ahead of print.ABSTRACTThe assembly of amyloidogenic peptides and proteins, such as the β-amyloid peptide, α-synuclein, huntingtin, tau, and islet amyloid polypeptide, into amyloid fibrils and oligomers is directly linked to amyloid diseases, such as Alzheimer's, Parkinson's, and Huntington's diseases, frontotemporal dementias, and type II diabetes. Although amyloid oligomers have emerged as especially important in amyloid diseases, high-resolution structures of the oligomers formed by full-length amyloidogenic peptides and prote...
Source: Current Opinion in Chemical Biology - July 6, 2021 Category: Biochemistry Authors: Tuan D Samdin Adam G Kreutzer James S Nowick Source Type: research

Transforming growth factor- β-regulated mTOR activity preserves cellular metabolism to maintain long-term T cell responses in chronic infection
Exhausted T  cells are heterogenous, consisting of subpopulations with different functional and developmental properties. Gabriel et al. demonstrate that TGF-β-mediated mTOR inhibition preserves the cellular metabolism of precursors of exhausted T cells, which both limits and sustains long-term T cell resp onses in chronic infections. (Source: Immunity)
Source: Immunity - July 6, 2021 Category: Allergy & Immunology Authors: Sarah S. Gabriel, Carlson Tsui, David Chisanga, Flora Weber, Manuela Llano-Le ón, Patrick M. Gubser, Laurent Bartholin, Fernando Souza-Fonseca-Guimaraes, Nicholas D. Huntington, Wei Shi, Daniel T. Utzschneider, Axel Kallies Tags: Article Source Type: research

'I have to start learning how to live with becoming sick': A scoping review of the lived experiences of people with Huntington's disease
This article is protected by copyright. All rights reserved.PMID:34216010 | DOI:10.1111/cge.14024 (Source: Clinical Genetics)
Source: Clinical Genetics - July 3, 2021 Category: Genetics & Stem Cells Authors: Saadia Mahmood Susan Law Yvonne Bombard Source Type: research

'I have to start learning how to live with becoming sick': A scoping review of the lived experiences of people with Huntington's disease
This article is protected by copyright. All rights reserved.PMID:34216010 | DOI:10.1111/cge.14024 (Source: Clinical Genetics)
Source: Clinical Genetics - July 3, 2021 Category: Genetics & Stem Cells Authors: Saadia Mahmood Susan Law Yvonne Bombard Source Type: research

RNA-seq analysis reveals significant transcriptome changes in huntingtin-null human neuroblastoma cells
Huntingtin (Htt) protein is the product of the gene mutated in Huntington ’s disease (HD), a fatal, autosomal dominant, neurodegenerative disorder. Normal Htt is essential for early embryogenesis and the develo... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - July 2, 2021 Category: Genetics & Stem Cells Authors: Johanna Bensalel, Hongyuan Xu, Michael L. Lu, Enrico Capobianco and Jianning Wei Tags: Research article Source Type: research

Silyl resveratrol derivatives as potential therapeutic agents for neurodegenerative and neurological diseases
In this study, we found serendipitously that O-silyl RES derivatives exerted a better neuroprotective activity than resveratrol itself and decided to explore them as potential drugs for neurodegenerative and neurological diseases. We have also designed and prepared a series of O-silyl RES prodrugs to improve their bioavailability. We found that di-triethylsilyl and di-triisopropylsilyl RES derivatives were better in vitro neuroprotective and anti-inflammatory agents than RES. Among these derivatives and their corresponding acyl-, glycosyl- and carbamoyl-prodrugs, 3,5-triethylsilyl-4'-(6″-octanoylglucopyranosyl) resve...
Source: European Journal of Medicinal Chemistry - June 27, 2021 Category: Chemistry Authors: Efres Belmonte-Reche Pablo Pe ñalver Marta Caro-Moreno Mar ía Luisa Mateos-Martín Norma Ad án Mario Delgado Elena Gonz ález-Rey Juan Carlos Morales Source Type: research

Genome editing in stem cells for genetic neurodisorders
Prog Mol Biol Transl Sci. 2021;182:403-438. doi: 10.1016/bs.pmbts.2020.12.006. Epub 2021 Jan 30.ABSTRACTThe recent advent of genome editing techniques and their rapid improvement paved the way in establishing innovative human neurological disease models and in developing new therapeutic opportunities. Human pluripotent (both induced or naive) stem cells and neural stem cells represent versatile tools to be applied to multiple research needs and, together with genomic snip and fix tools, have recently made possible the creation of unique platforms to directly investigate several human neural affections. In this chapter, we ...
Source: Mol Biol Cell - June 27, 2021 Category: Molecular Biology Authors: Claudia Dell' Amico Alice Tata Enrica Pellegrino Marco Onorati Luciano Conti Source Type: research

Silyl resveratrol derivatives as potential therapeutic agents for neurodegenerative and neurological diseases
In this study, we found serendipitously that O-silyl RES derivatives exerted a better neuroprotective activity than resveratrol itself and decided to explore them as potential drugs for neurodegenerative and neurological diseases. We have also designed and prepared a series of O-silyl RES prodrugs to improve their bioavailability. We found that di-triethylsilyl and di-triisopropylsilyl RES derivatives were better in vitro neuroprotective and anti-inflammatory agents than RES. Among these derivatives and their corresponding acyl-, glycosyl- and carbamoyl-prodrugs, 3,5-triethylsilyl-4'-(6″-octanoylglucopyranosyl) resve...
Source: European Journal of Medicinal Chemistry - June 27, 2021 Category: Chemistry Authors: Efres Belmonte-Reche Pablo Pe ñalver Marta Caro-Moreno Mar ía Luisa Mateos-Martín Norma Ad án Mario Delgado Elena Gonz ález-Rey Juan Carlos Morales Source Type: research