Results 61 to 70 of about 139,916 (258)

The balancing act of DNA repeat expansions [PDF]

Current Opinion in Genetics & Development, 2013
Expansions of microsatellite DNA repeats contribute to the inheritance of nearly 30 developmental and neurological disorders. Significant progress has been made in elucidating the molecular mechanisms of repeat expansions using various model organisms and mammalian cell culture, and models implicating nearly all DNA transactions such as replication ...
Jane C, Kim, Sergei M, Mirkin
openaire   +2 more sources

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

FEBS Letters, EarlyView.
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

Molecular Neurodegeneration, 2020
Background A repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) is the most common genetic cause of two debilitating neurodegenerative diseases: amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Jazmyne L. Jackson, NiCole A. Finch, Matthew C. Baker, Jennifer M. Kachergus, Mariely DeJesus-Hernandez, Kimberly Pereira, Elizabeth Christopher, Mercedes Prudencio, Michael G. Heckman, E. Aubrey Thompson, Dennis W. Dickson, Jaimin Shah, Björn Oskarsson, Leonard Petrucelli, Rosa Rademakers, Marka van Blitterswijk   +15 more
doaj   +1 more source

Dual-gRNA approach with limited off-target effect corrects C9ORF72 repeat expansion in vivo

Scientific Reports, 2022
C9ORF72 GGGGCC repeat expansion is the most common genetic cause for amyotrophic lateral sclerosis and frontotemporal dementia, which generates abnormal DNA and RNA structures and produces toxic proteins.
Xuejiao Piao, Dawei Meng, Xue Zhang, Qiang Song, Hailong Lv, Yichang Jia   +5 more
doaj   +1 more source

α‐Synuclein aggregation landscape from phase separation to neurotoxic intermediates

FEBS Letters, EarlyView.
Alpha‐synuclein aggregation in Parkinson's disease involves a complex landscape of transient intermediates, including oligomers, fibrils and liquid–liquid phase separation (LLPS). A view is emerging in which LLPS maturation into solid‐like condensates may contribute to the formation of neurotoxic species.
Silvia Arino, Giuliana Fusco, Alfonso De Simone   +2 more
wiley   +1 more source

CGG Repeat Expansion, and Elevated Fmr1 Transcription and Mitochondrial Copy Number in a New Fragile X PM Mouse Embryonic Stem Cell Model

Frontiers in Cell and Developmental Biology, 2020
The Fragile-X related disorders (FXDs) are Repeat Expansion Diseases (REDs) that result from expansion of a CGG-repeat tract located at the 5′ end of the FMR1 gene.
Inbal Gazy, Inbal Gazy, Carson J. Miller, Geum-Yi Kim, Karen Usdin   +4 more
doaj   +1 more source

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

FEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source

Intersecting impact of CAG repeat and huntingtin knockout in stem cell-derived cortical neurons

Neurobiology of Disease
Huntington's Disease (HD) is caused by a CAG repeat expansion in the gene encoding huntingtin (HTT). While normal HTT function appears impacted by the mutation, the specific pathways unique to CAG repeat expansion versus loss of normal function are ...
Jennifer T. Stocksdale, Matthew J. Leventhal, Stephanie Lam, Yu-Xin Xu, Yang Oliver Wang, Keona Q. Wang, Reuben Thomas, Zohreh Faghihmonzavi, Yogindra Raghav, Charlene Smith, Jie Wu, Ricardo Miramontes, Kanchan Sarda, Heather Johnston, Min-Gyoung Shin, Terry Huang, Mikelle Foster, Mariya Barch, Naufa Amirani, Chris Paiz, Lindsay Easter, Erse Duderstadt, Vineet Vaibhav, Niveda Sundararaman, Dan P. Felsenfeld, Thomas F. Vogt, Jennifer Van Eyk, Steve Finkbeiner, Julia A. Kaye, Ernest Fraenkel, Leslie M. Thompson   +30 more
doaj   +1 more source

Mixed‐class J‐domain protein scaffolds promote expanded aggregate handling and multivalent Hsp70 engagement during functional disaggregase assembly

FEBS Letters, EarlyView.
Protein aggregates threaten proteostasis and cell health. In human cells, Hsp70–J‐domain protein‐based disaggregases remove aggregates, but how they assemble remains unclear. Our biochemical findings show that DNAJA2‐ and DNAJB1‐containing disaggregase scaffolds enhance luciferase aggregate targeting, and that Hsp70 recruitment by both J‐domain ...
Anna Szlachcic, Nadinath B. Nillegoda
wiley   +1 more source

Emerging drivers of DNA repeat expansions

Biochemical Society Transactions
Expansions of short tandem repeats (STRs) are the cause of a class of human hereditary disorders called repeat expansion diseases (REDs). Most REDs are neurodegenerative or neurodevelopmental diseases such as Huntington’s disease, myotonic dystrophy, fragile X syndrome, and Friedreich’s ataxia.
Liangzi Li, W. Shem Scott, Sergei M. Mirkin   +2 more
openaire   +2 more sources