Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China
Sign Up to like & getrecommendations! Published in 2022 at "Neurological Sciences"
DOI: 10.1007/s10072-022-06005-y
Abstract: Oculopharyngodistal myopathy (OPDM) is a rare adult-onset hereditary muscular disease characterized by slowly progressive ptosis, external ophthalmoplegia and weakness of the facial, pharyngeal and distal limb muscles. Recently, CGG repeat expansion mutations in three genes,… read more here.
Keywords: southwestern china; report; cgg repeat; repeat expansions ... See more keywords
A selective inhibitor of histone deacetylase 3 prevents cognitive deficits and suppresses striatal CAG repeat expansions in Huntington’s disease mice
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-05125-2
Abstract: Huntington’s disease (HD) is a neurodegenerative disorder whose major symptoms include progressive motor and cognitive dysfunction. Cognitive decline is a critical quality of life concern for HD patients and families. The enzyme histone deacetylase 3… read more here.
Keywords: repeat expansions; striatal cag; cag repeat; disease ... See more keywords
Mononucleotide repeat expansions with non-natural polymerase substrates
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-82150-2
Abstract: Replicative strand slippage is a biological phenomenon, ubiquitous among different organisms. However, slippage events are also relevant to non-natural replication models utilizing synthetic polymerase substrates. Strand slippage may notably affect the outcome of the primer… read more here.
Keywords: repeat expansions; polymerase substrates; expansions non; mononucleotide repeat ... See more keywords
Concurrence of NMOSD and ALS in a patient with hexanucleotide repeat expansions of C9orf72
Sign Up to like & getrecommendations! Published in 2019 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2019.1604761
Abstract: Abstract We describe a patient, previously known for NMOSD, who presented a rapidly progressive worsening of muscle strength, respiratory, and bulbar functions. ALS associated with cognitive impairment was diagnosed, while genetic analysis revealed a hexanucleotide… read more here.
Keywords: concurrence nmosd; repeat expansions; patient hexanucleotide; nmosd als ... See more keywords
Repeat expansions nested within tandem CNVs: A unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac173
Abstract: Glutaminase deficiency has recently been associated with ataxia and developmental delay due to repeat expansions in the 5'UTR of the glutaminase (GLS) gene. Patients with the described GLS repeat expansion may indeed remain undiagnosed due… read more here.
Keywords: gls; nested within; repeat; repeat expansions ... See more keywords
Conformational dynamics of RNA G4C2 and G2C4 repeat expansions causing ALS/FTD using NMR and molecular dynamics studies.
Sign Up to like & getrecommendations! Published in 2023 at "Nucleic acids research"
DOI: 10.1093/nar/gkad403
Abstract: G4C2 and G2C4 repeat expansions in chromosome 9 open reading frame 72 (C9orf72) are the most common cause of genetically defined amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), or c9ALS/FTD. The gene is bidirectionally… read more here.
Keywords: repeat expansions; conformational dynamics; g2c4 repeat; g2c4 ... See more keywords
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Neurology"
DOI: 10.1111/ene.15310
Abstract: Ataxia and cough are rare features in hereditary sensory and autonomic neuropathies (HSAN), a group of diseases of mostly unknown genetic cause. Biallelic repeat expansions in RFC1 are associated with cerebellar ataxia, neuropathy, and vestibular… read more here.
Keywords: sensory autonomic; cough; repeat; cause ... See more keywords
NOTCH2NLC expanded GGC repeats in patients with cerebral small vessel disease
Sign Up to like & getrecommendations! Published in 2022 at "Stroke and Vascular Neurology"
DOI: 10.1136/svn-2022-001631
Abstract: Objective GGC repeat expansions in the human-specific NOTCH2NLC gene have been reported as the cause of neuronal intranuclear inclusion disease (NIID). Given the clinical overlap of cognitive impairment in NIID and cerebral small vessel disease… read more here.
Keywords: csvd; disease; repeat; repeat expansions ... See more keywords
Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.986504
Abstract: Non-coding repeat expansions within RFC1 and NOTCH2NLC genes have lately been linked to multisystem neurodegenerative diseases, which also shed light on yet undiagnosed patients with inherited peripheral neuropathies. The aim of this study was to… read more here.
Keywords: hereditary sensory; sensory autonomic; repeat; rfc1 repeat ... See more keywords
Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries
Sign Up to like & getrecommendations! Published in 2020 at "Genes"
DOI: 10.3390/genes11121418
Abstract: Unstable repeat expansions and insertions cause more than 30 neurodegenerative and neuromuscular diseases. Remarkably, bidirectional transcription of repeat expansions has been identified in at least 14 of these diseases. More remarkably, a growing number of… read more here.
Keywords: neuromuscular diseases; transcription; repeat expansions; repeat ... See more keywords