[Nuclear aggregates in oculopharyngeal muscular dystrophy].
Les agrégats nucléaires dans la dystrophie musculaire oculopharyngée.
Journal
Medecine sciences : M/S
ISSN: 1958-5381
Titre abrégé: Med Sci (Paris)
Pays: France
ID NLM: 8710980
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
entrez:
17
1
2023
pubmed:
18
1
2023
medline:
20
1
2023
Statut:
ppublish
Résumé
Oculopharyngeal muscular dystrophy (OPMD) is one of the diseases related to pathological expansions of trinucleotides. Its pathogenesis remains unclear although the presence of aggregates within the nuclei of the muscle fiber seems to play an important role. The basic research studies presented here help understand their composition and their deleterious role. These elements may result in new therapeutic avenues. Les agrégats nucléaires dans la dystrophie musculaire oculopharyngée. La dystrophie musculaire oculopharyngée est une des maladies en rapport avec des expansions pathologiques de triplets nucléotidiques. Sa physiopathologie est encore imparfaitement connue même si la présence d’agrégats au niveau des noyaux de la fibre musculaire semble jouer un rôle déterminant. Les travaux fondamentaux présentés ici permettent de mieux comprendre leur composition et leur rôle délétère. Autant d’éléments qui pourraient déboucher sur des voies thérapeutiques nouvelles.
Autres résumés
Type: Publisher
(fre)
Les agrégats nucléaires dans la dystrophie musculaire oculopharyngée.
Identifiants
pubmed: 36649629
doi: 10.1051/medsci/2022175
pii: medsci220175s
doi:
Types de publication
English Abstract
Journal Article
Langues
fre
Sous-ensembles de citation
IM
Pagination
13-16Informations de copyright
© 2022 médecine/sciences – Inserm.
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