Results 21 to 30 of about 139,916 (258)
HGG Advances, 2022 Summary: Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by an expanded pentanucleotide repeat in the ATXN10 gene. This repeat expansion, when fully penetrant, has a size of 850–4,500 repeats.
C. Alejandra Morato Torres +16 more
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Expansion of Protein Domain Repeats
PLoS Computational Biology, 2005 Many proteins, especially in eukaryotes, contain tandem repeats of several domains from the same family. These repeats have a variety of binding properties and are involved in protein-protein interactions as well as binding to other ligands such as DNA and RNA.
Åsa K. Björklund +2 more
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Biomedicines, 2023 Short tandem repeats (STRs) are units of 1–6 base pairs that occur in tandem repetition to form a repeat tract. STRs exhibit repeat instability, which generates expansions or contractions of the repeat tract.
Stephanie Calluori +2 more
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Frontiers in Neurology, 2023 IntroductionNeuromuscular disorders (NMDs) have a heterogeneous etiology. A genetic diagnosis is key to personalized healthcare and access to targeted treatment for the affected individuals.MethodsIn this study, 861 patients with NMDs were analyzed with ...
Marlene Ek +34 more
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Proteinopathies associated to repeat expansion disorders
Journal of Neural Transmission, 2022 The most common neurodegenerative disorders, such as Alzheimer's or Parkinson's diseases, are characterized by synaptic dysfunction, neuronal loss and proteinaceous aggregates in central nervous system. The deposition of misfolded proteins constitutes neuropathological hallmarks of these diseases, grouped in the generic term of proteinopathies.
Anthony Fourier, Isabelle Quadrio
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Screening for C9ORF72 repeat expansion in FTLD [PDF]
Neurobiology of Aging, 2012 In the present study we aimed to determine the prevalence of C9ORF72 GGGGCC hexanucleotide expansion in our cohort of 53 frontotemporal lobar degeneration (FTLD) patients and 174 neurologically normal controls. We identified the hexanucleotide repeat, in the pathogenic range, in 4 (2 bv-frontotemporal dementia (FTD) and 2 FTD-amyotrophic lateral ...
Ferrari R +16 more
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C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. [PDF]
PLoS ONE, 2013 A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known.
Carol Dobson-Stone +17 more
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A transgenic cell line with inducible transcription for studying (CGG)n repeat expansion mechanisms
Вавиловский журнал генетики и селекции, 2021 There are more than 30 inherited human disorders connected with repeat expansion (myotonic dystrophy type I, Huntington’s disease, Fragile X syndrome).
I. V. Grishchenko +9 more
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Repeat expansion diseases [PDF]
, 2018 More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human genome. Expanded trinucleotide repeat diseases were discovered first and remain the most frequent.
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Epigenetics in Nucleotide Repeat Expansion Disorders [PDF]
Seminars in Neurology, 2011 Over the past 20 years, nucleotide repeat expansion disorders have informed our broader understanding of neurodevelopmental and neurodegenerative disease. This is especially true with regard to the contributions of epigenetic mechanisms to neurologic disease pathogenesis. In this review, the authors describe a few of the myriad ways in which epigenetic
Fang, He, Peter K, Todd
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