CGG repeat expansion in

5' Untranslated Regions Animals Animals, Genetically Modified Drosophila / genetics Intranuclear Inclusion Bodies / genetics Leucine / genetics Mitochondria / genetics Neurodegenerative Diseases / genetics RNA-Binding Proteins / genetics Trinucleotide Repeat Expansion / genetics
idebenone treatment mitochondrial oxidative phosphorylation defects neuronal intranuclear inclusion disease polyG transgenic Drosophila model

Journal

Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876

Informations de publication

Date de publication:
11 10 2022
Historique:
entrez: 3 10 2022
pubmed: 4 10 2022
medline: 6 10 2022
Statut: ppublish

Résumé

Neuronal intranuclear inclusion disease (NIID) is a neuromuscular/neurodegenerative disease caused by the expansion of CGG repeats in the 5' untranslated region (UTR) of the

Identifiants

DOI: 10.1073/pnas.2208649119 PMID: 36191230 PMC: PMC9565157
pubmed: 36191230
doi: 10.1073/pnas.2208649119
pmc: PMC9565157
doi:

Substances chimiques

5' Untranslated Regions 0
RNA-Binding Proteins 0
Leucine GMW67QNF9C

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e2208649119

Références

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Auteurs

Jiaxi Yu (J)

Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China.

Tongling Liufu (T)

Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China.

Yilei Zheng (Y)

Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China.

Jin Xu (J)

Center of Ultrastructural Pathology, Lab of Electron Microscopy, Peking University First Hospital, Beijing, 100034, China.

Lingchao Meng (L)

Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China.

Wei Zhang (W)

Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China.

Yun Yuan (Y)

Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China.

Daojun Hong (D)

Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China.
Department of Medical Genetics, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China.

Nicolas Charlet-Berguerand (N)

Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U 1258, CNRS UMR 7104, University of Strasbourg, 67404 Illkirch, France.

Zhaoxia Wang (Z)

Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China.

Jianwen Deng (J)

Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China.
ORCID: 0000-0003-1206-1778

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Régions non traduites › Régions 5' non traduites › CGG repeat expansion in
questionsmedicales.fr › Eucaryotes › Animaux › CGG repeat expansion in
questionsmedicales.fr › Stades d'organismes › Organismes génétiquement modifiés › Animal génétiquement modifié › CGG repeat expansion in
questionsmedicales.fr › Eucaryotes › Animaux › Invertébrés › Arthropodes › Insectes › Pterygota › Neoptera › Holometabola › Diptera › Drosophilidae › Drosophila › CGG repeat expansion in
questionsmedicales.fr › Cellules › Structures cellulaires › Corps d'inclusion › Corps d'inclusion intranucléaire › CGG repeat expansion in
questionsmedicales.fr › Acides aminés, peptides et protéines › Acides aminés › Acides aminés essentiels › Leucine › CGG repeat expansion in
questionsmedicales.fr › Cellules › Structures cellulaires › Fractions subcellulaires › Mitochondries › CGG repeat expansion in
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › CGG repeat expansion in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › CGG repeat expansion in
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › Expansion de trinucléotide répété › CGG repeat expansion in