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NOTCH2NLC GGC intermediate repeat with serine induces hypermyelination and early Parkinson's disease-like phenotypes in mice.
Mol Neurodegener
November 2024
Neural Stem Cell Research Lab, Research Department, National Neuroscience Institute, Singapore, 308433, Singapore.
Article Synopsis
- The NOTCH2NLC gene is linked to several neurological disorders through expansions of GGC repeats in its 5' untranslated region, which can lead to conditions like Parkinson's, dementia, and tremors.
- The study used cellular models and CRISPR-Cas9 engineered mice with specific GGC repeat variations to investigate the effects of these repeats, particularly focusing on those with serine insertions.
- Results showed that a specific intermediate repeat with serine insertion caused mitochondrial dysfunction and neurotoxicity, leading to PD-like symptoms in mice, including neuronal loss and behavioral impairments.
dmTGS: Precise Targeted Enrichment Long-Read Sequencing Panel for Tandem Repeat Detection.
Clin Chem
November 2024
Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China.
Background: Tandem repeats (TRs) are abundant in the human genome and associated with repeat expansion disorders. Our study aimed to develop a tandem repeat panel utilizing targeted long-read sequencing to evaluate known TRs associated with these disorders and assess its clinical utility.
Methods: We developed a targeted long-read sequencing panel for 70 TR loci, termed dynamic mutation third-generation sequencing (dmTGS), using the PacBio Sequel II platform.
Non-coding CGG repeat expansion in is associated with a phenotype of oculopharyngodistal myopathy.
J Med Genet
March 2024
Department of Neurology, Peking University First Hospital, Beijing, China
Background: Oculopharyngodistal myopathy (OPDM) is a rare adult-onset neuromuscular disease, associated with CGG repeat expansions in the 5' untranslated region of , , and . However, the genetic cause of a proportion of pathoclinically confirmed cases remains unknown.
Methods: A total of 26 OPDM patients with unknown genetic cause(s) from 4 tertiary referral hospitals were included in this study.
Characteristics of autonomic dysfunction in neuronal intranuclear inclusion disease.
Front Neurol
June 2023
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Background: This study aimed to investigate the features of autonomic dysfunction (AutD) in a large cohort of patients with neuronal intranuclear inclusion disease (NIID).
Methods: A total of 122 patients with NIID and 122 controls were enrolled. All participants completed the Scales for Outcomes in Parkinson's Disease-Autonomic Questionnaire (SCOPA-AUT) and genetic screening for GGC expanded repeats within the gene.
NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.
Acta Neuropathol Commun
May 2023
Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
The retinal pathology of genetically confirmed neuronal intranuclear inclusion disease (NIID) is yet unknown. We report the ocular findings in four NIID patients with NOTCH2NLC GGC repeat expansion to investigate the pathology of retinopathy. All four NIID patients were diagnosed by skin biopsy and NOTCH2NLC GGC repeat analysis.
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