Generation of autism spectrum disorder patient-derived iPSC line SDUKIi004-A

Publication date: Available online 8 October 2020Source: Stem Cell ResearchAuthor(s): Morad Kamand, Mirolyuba Ilieva, Sheena Louise Forsberg, Mads Thomassen, Åsa Fex Svenningsen, Morten Meyer, Tanja Maria Michel
Source: Stem Cell Research - Category: Stem Cells Source Type: research

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Publication date: December 2020Source: Stem Cell Research, Volume 49Author(s): Flavia-Bianca Cristian, Alexandra Köppel, Johannes Janssen, Jochen S. Utikal, Gudrun A. Rappold, Simone Berkel
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Barrett LE Abstract Fragile X mental retardation 1 (FMR1) encodes the RNA binding protein FMRP. Loss of FMRP drives Fragile X syndrome (FXS), the leading inherited cause of intellectual disability and a leading monogenic cause of autism. While cortical hyperexcitability is a hallmark of FXS, the reported phenotypes and underlying mechanisms, including alterations in synaptic transmission and ion channel properties, are heterogeneous and at times contradictory. Here, we report the generation of new isogenic FMR1y/+ and FMR1y/- human pluripotent stem cell (hPSC) lines using CRISPR-Cas9 to facilitate the study of ho...
Source: Developmental Biology - Category: Biology Authors: Tags: Dev Biol Source Type: research
Publication date: Available online 19 September 2020Source: Stem Cell ResearchAuthor(s): Flavia-Bianca Cristian, Alexandra Köppel, Johannes Janssen, Jochen Sven Utikal, Gudrun A. Rappold, Simone Berkel
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Basel, 11 September 2020 – Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced new data that show OCREVUS® (ocrelizumab) is a highly effective treatment option for people with relapsing-remitting multiple sclerosis (RRMS) who experienced a suboptimal response to their prior disease modifying therapy (DMT). Subgroup analys is from the two-year open-label Phase IIIb CASTING study also demonstrates that patients benefit across a wide range of disease related and demographic subgroups, regardless of prior treatment background. Findings will be presented at MSVirtual2020, the 8th Joint Meeting of the Americas Committee...
Source: Roche Media News - Category: Pharmaceuticals Source Type: news
AbstractThe complex pathophysiology of autism spectrum disorder encompasses interactions between genetic and environmental factors. On the one hand, hundreds of genes, converging at the functional level on selective biological domains such as epigenetic regulation and synaptic function, have been identified to be either causative or risk factors of autism. On the other hand, exposure to chemicals that are widespread in the environment, such as endocrine disruptors, has been associated with adverse effects on human health, including neurodevelopmental disorders. Interestingly, experimental results suggest an overlap in the ...
Source: Molecular Autism - Category: Molecular Biology Source Type: research
Basel, 9 September 2020 – Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced the initiation of an innovative Phase III clinical trial programme for its investigational medicine fenebrutinib in multiple sclerosis (MS), along with a higher-dose Phase III clinical trial programme for OCREVUS® (ocrelizumab) and a distinct O CREVUS trial specifically to support African-American and Hispanic- and Latinx-American patients with MS. Overviews of clinical trials and scientific rationale will be presented at MSVirtual2020, the 8th Joint Meeting of the Americas Committee for Treatment and Research in Multiple Sclerosis (ACTR...
Source: Roche Media News - Category: Pharmaceuticals Source Type: news
The chromatin remodeler CHD8 is among the most frequently mutated genes in autism spectrum disorder (ASD). CHD8 has a dosage-sensitive role in ASD, but when and how it becomes critical to human social function is unclear. Here, we conducted genomic analyses of heterozygous and homozygous Chd8 mouse embryonic stem cells...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
Publication date: Available online 1 September 2020Source: Stem Cell ResearchAuthor(s): Morad Kamand, Mirolyuba Ilieva, Sheena Louise Forsberg, Mads Thomassen, Morten Meyer, Åsa Fex Svenningsen, Tanja Maria Michel
Source: Stem Cell Research - Category: Stem Cells Source Type: research
In this study, we aim to investigate the potential mechanisms through a maternal diabetes-induced autistic mouse model. We found that maternal diabetes-induced autistic offspring have epigenetic changes on the superoxide dismutase 2 (SOD2) promoter with subsequent SOD2 suppression in both hematopoietic stem cells (HSC) and peripheral blood mononuclear cells (PBMC). Bone marrow transplantation of normal HSC to maternal diabetes-induced autistic offspring transferred epigenetic modifications to PBMC and significantly reversed SOD2 suppression and oxidative stress and elevated inflammatory cytokine levels. Further, in vivo hu...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
ConclusionsThese data suggest that reduced amounts of the functional NL4X protein on the cell surface is a common mechanism by which point mutants of the NL4X protein cause psychiatric disorders, although different molecular mechanisms are thought to be involved. Furthermore, these results highlight that the precision medicine approach based on genetic and cell biological analyses is important for the development of therapeutics for psychiatric disorders.
Source: Molecular Autism - Category: Molecular Biology Source Type: research
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