Stathmin 2 is a potential treatment target for TDP-43 proteinopathy in amyotrophic lateral sclerosis
(Source: Translational Neurodegeneration)
Source: Translational Neurodegeneration - April 11, 2024 Category: Neurology Source Type: research
C9ORF72 patient-derived endothelial cells drive blood-brain barrier disruption and contribute to neurotoxicity
AbstractThe blood-brain barrier (BBB) serves as a highly intricate and dynamic interface connecting the brain and the bloodstream, playing a vital role in maintaining brain homeostasis. BBB dysfunction has been associated with multiple neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS); however, the role of the BBB in neurodegeneration is understudied. We developed an ALS patient-derived model of the BBB by using cells derived from 5 patient donors carryingC9ORF72 mutations. Brain microvascular endothelial-like cells (BMEC-like cells) derived fromC9ORF72-ALS patients showed altered gene expression, c...
Source: Fluids and Barriers of the CNS - April 11, 2024 Category: Neuroscience Source Type: research
Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model
Nucleic Acids Res. 2024 Apr 10:gkae250. doi: 10.1093/nar/gkae250. Online ahead of print.ABSTRACTExpansion of a G4C2 repeat in the C9orf72 gene is associated with familial Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). To investigate the underlying mechanisms of repeat instability, which occurs both somatically and intergenerationally, we created a novel mouse model of familial ALS/FTD that harbors 96 copies of G4C2 repeats at a humanized C9orf72 locus. In mouse embryonic stem cells, we observed two modes of repeat expansion. First, we noted minor increases in repeat length per expansion event, which...
Source: Cell Research - April 10, 2024 Category: Cytology Authors: Nada Kojak Junko Kuno Kristina E Fittipaldi Ambereen Khan David Wenger Michael Glasser Roberto A Donnianni Yajun Tang Jade Zhang Katie Huling Roxanne Ally Alejandro O Mujica Terrence Turner Gina Magardino Pei Yi Huang Sze Yen Kerk Gustavo Droguett Marine Source Type: research
A dynamic regulatory switch for phase separation of FUS protein: Zinc ions and zinc finger domain
Biochem Biophys Res Commun. 2024 Apr 7;710:149862. doi: 10.1016/j.bbrc.2024.149862. Online ahead of print.ABSTRACTZinc is an important trace element in the human body, and its homeostasis is closely related to amyotrophic lateral sclerosis (ALS). Cytoplasmic FUS proteins from patients with ALS aggregate their important pathologic markers. Liquid-liquid phase separation (LLPS) of FUS can lead to its aggregation. However, whether and how zinc homeostasis affects the aggregation of disease-associated FUS proteins in the cytoplasm remains unclear. Here, we found that zinc ion enhances LLPS and promotes the aggregation in the c...
Source: Biochemical and Biophysical Research communications - April 9, 2024 Category: Biochemistry Authors: Yatao Chen Xiaoying Pei Long Chen Liming Chen Source Type: research
Alleviating Neurodegenerative Diseases Associated with Mitochondrial Defects by Therapeutic Biomolecules
Curr Top Med Chem. 2024 Apr 5. doi: 10.2174/0115680266299148240329062647. Online ahead of print.ABSTRACTNeurodegenerative diseases are emerging as a global health concern in the current sce-nario, and their association with mitochondrial defects has been a potential area of research. Mi-tochondria, one of the essential organelles of the cell, serve as the cell's powerhouse, producing energy and ensuring cellular health. Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's, amyotrophic lateral sclerosis, and Pelizaeus-Merzbacher disease have been found to be primarily triggered by mitochondrial malfunct...
Source: Current Topics in Medicinal Chemistry - April 9, 2024 Category: Chemistry Authors: Tanmoy Roy Swarupanjali Padhi Rupa Mazumder Chandana Majee Saumya Das Monika Monika Rashmi Mishra Bhupinder Kapoor Source Type: research
A dynamic regulatory switch for phase separation of FUS protein: Zinc ions and zinc finger domain
Biochem Biophys Res Commun. 2024 Apr 7;710:149862. doi: 10.1016/j.bbrc.2024.149862. Online ahead of print.ABSTRACTZinc is an important trace element in the human body, and its homeostasis is closely related to amyotrophic lateral sclerosis (ALS). Cytoplasmic FUS proteins from patients with ALS aggregate their important pathologic markers. Liquid-liquid phase separation (LLPS) of FUS can lead to its aggregation. However, whether and how zinc homeostasis affects the aggregation of disease-associated FUS proteins in the cytoplasm remains unclear. Here, we found that zinc ion enhances LLPS and promotes the aggregation in the c...
Source: Biochemical and Biophysical Research communications - April 9, 2024 Category: Biochemistry Authors: Yatao Chen Xiaoying Pei Long Chen Liming Chen Source Type: research
Alleviating Neurodegenerative Diseases Associated with Mitochondrial Defects by Therapeutic Biomolecules
Curr Top Med Chem. 2024 Apr 5. doi: 10.2174/0115680266299148240329062647. Online ahead of print.ABSTRACTNeurodegenerative diseases are emerging as a global health concern in the current sce-nario, and their association with mitochondrial defects has been a potential area of research. Mi-tochondria, one of the essential organelles of the cell, serve as the cell's powerhouse, producing energy and ensuring cellular health. Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's, amyotrophic lateral sclerosis, and Pelizaeus-Merzbacher disease have been found to be primarily triggered by mitochondrial malfunct...
Source: Current Topics in Medicinal Chemistry - April 9, 2024 Category: Chemistry Authors: Tanmoy Roy Swarupanjali Padhi Rupa Mazumder Chandana Majee Saumya Das Monika Monika Rashmi Mishra Bhupinder Kapoor Source Type: research
Alleviating Neurodegenerative Diseases Associated with Mitochondrial Defects by Therapeutic Biomolecules
Curr Top Med Chem. 2024 Apr 5. doi: 10.2174/0115680266299148240329062647. Online ahead of print.ABSTRACTNeurodegenerative diseases are emerging as a global health concern in the current sce-nario, and their association with mitochondrial defects has been a potential area of research. Mi-tochondria, one of the essential organelles of the cell, serve as the cell's powerhouse, producing energy and ensuring cellular health. Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's, amyotrophic lateral sclerosis, and Pelizaeus-Merzbacher disease have been found to be primarily triggered by mitochondrial malfunct...
Source: Current Topics in Medicinal Chemistry - April 9, 2024 Category: Chemistry Authors: Tanmoy Roy Swarupanjali Padhi Rupa Mazumder Chandana Majee Saumya Das Monika Monika Rashmi Mishra Bhupinder Kapoor Source Type: research
Alleviating Neurodegenerative Diseases Associated with Mitochondrial Defects by Therapeutic Biomolecules
Curr Top Med Chem. 2024 Apr 5. doi: 10.2174/0115680266299148240329062647. Online ahead of print.ABSTRACTNeurodegenerative diseases are emerging as a global health concern in the current sce-nario, and their association with mitochondrial defects has been a potential area of research. Mi-tochondria, one of the essential organelles of the cell, serve as the cell's powerhouse, producing energy and ensuring cellular health. Neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's, amyotrophic lateral sclerosis, and Pelizaeus-Merzbacher disease have been found to be primarily triggered by mitochondrial malfunct...
Source: Current Topics in Medicinal Chemistry - April 9, 2024 Category: Chemistry Authors: Tanmoy Roy Swarupanjali Padhi Rupa Mazumder Chandana Majee Saumya Das Monika Monika Rashmi Mishra Bhupinder Kapoor Source Type: research
Cognitive reserve in ALS: the role of occupational skills and requirements
. (Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration)
Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - April 9, 2024 Category: Neurology Authors: Emma RhodesSebleh AlfaHannah A. JinLauren MassimoLauren ElmanDefne AmadoMichael BaerColin QuinnCorey T. McMillan1 University of Pennsylvania Frontotemporal Degeneration Center, Philadelphia, PA, USA and2 University of Pennsylvania Comprehensive ALS Center Source Type: research
Case-control study of environmental toxins and risk of amyotrophic lateral sclerosis involving the national ALS registry
. (Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration)
Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - April 9, 2024 Category: Neurology Authors: Evelyn O. TalbottAngela M. MalekVincent C. ArenaFan WuKristen SteffesRavi K. SharmaJeanine BuchanichJudith R. RagerTodd BearCaroline A. HoffmanDavid LacomisChris DonnellyJocelyn MaunaJohn E. Vena1 Department of Epidemiology, University of Pittsburgh, Scho Source Type: research
Neurofilament Light Chain Levels Interact with Neurodegenerative Patterns and Motor Neuron Dysfunction in Amyotrophic Lateral Sclerosis [NEURODEGENERATIVE DISORDER IMAGING]
CONCLUSIONS:
Serum neurofilament light chains may be an important mediator between clinical symptoms and neuronal loss according to cortical thickness. Furthermore, MR imaging anomalies might have underestimated prognostic value because they seem to indicate higher serum neurofilament light chain levels. (Source: American Journal of Neuroradiology)
Source: American Journal of Neuroradiology - April 8, 2024 Category: Radiology Authors: Tilsley, P., Moutiez, A., Brodovitch, A., Mendili, M. M. E., Testud, B., Zaaraoui, W., Verschueren, A., Attarian, S., Guye, M., Boucraut, J., Grapperon, A.-M., Stellmann, J.-P. Tags: NEURODEGENERATIVE DISORDER IMAGING Source Type: research
CHCHD10 < sup > S59L/+ < /sup > mouse model: Behavioral and neuropathological features of frontotemporal dementia
Neurobiol Dis. 2024 Apr 5:106498. doi: 10.1016/j.nbd.2024.106498. Online ahead of print.ABSTRACTCHCHD10-related disease causes a spectrum of clinical presentations including mitochondrial myopathy, cardiomyopathy, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). We generated a knock-in mouse model bearing the p.Ser59Leu (S59L) CHCHD10 variant. Chchd10S59L/+ mice have been shown to phenotypically replicate the disorders observed in patients: myopathy with mtDNA instability, cardiomyopathy and typical ALS features (protein aggregation, neuromuscular junction degeneration and spinal motor neuron loss). H...
Source: Neurobiology of Disease - April 7, 2024 Category: Neurology Authors: Emmanuelle C Genin Pauline Pozzo di Borgo Thomas Lorivel Sandrine Hugues M élissa Farinelli Alessandra Mauri-Crouzet Fran çoise Lespinasse Lucas Godin V éronique Paquis-Flucklinger Agn ès Petit-Paitel Source Type: research
CHCHD10 < sup > S59L/+ < /sup > mouse model: Behavioral and neuropathological features of frontotemporal dementia
Neurobiol Dis. 2024 Apr 5:106498. doi: 10.1016/j.nbd.2024.106498. Online ahead of print.ABSTRACTCHCHD10-related disease causes a spectrum of clinical presentations including mitochondrial myopathy, cardiomyopathy, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). We generated a knock-in mouse model bearing the p.Ser59Leu (S59L) CHCHD10 variant. Chchd10S59L/+ mice have been shown to phenotypically replicate the disorders observed in patients: myopathy with mtDNA instability, cardiomyopathy and typical ALS features (protein aggregation, neuromuscular junction degeneration and spinal motor neuron loss). H...
Source: Neurobiology of Disease - April 7, 2024 Category: Neurology Authors: Emmanuelle C Genin Pauline Pozzo di Borgo Thomas Lorivel Sandrine Hugues M élissa Farinelli Alessandra Mauri-Crouzet Fran çoise Lespinasse Lucas Godin V éronique Paquis-Flucklinger Agn ès Petit-Paitel Source Type: research
Sensors, Vol. 24, Pages 2355: Analysis of Heart Rate Variability in Individuals Affected by Amyotrophic Lateral Sclerosis
Conclusion: The Polar H7 Bluetooth&reg; device is effective in determining heart rate variability alterations in ALS, being a promising prognostic tool for the disease. (Source: Sensors)
Source: Sensors - April 7, 2024 Category: Biotechnology Authors: Rosa Maset-Roig Jordi Caplliure-Llopis Nieves de Bernardo Jes ús Privado Jorge Alarc ón-Jiménez Julio Mart ín-Ruiz Marta Botella-Navas Carlos Villar ón-Casales David Sancho-Cantus Jos é Enrique de la Rubia Ortí Tags: Article Source Type: research
