Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
C19orf12
MPAN
NBIA
Journal
Parkinsonism & related disorders
ISSN: 1873-5126
Titre abrégé: Parkinsonism Relat Disord
Pays: England
ID NLM: 9513583
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
26
05
2020
revised:
15
10
2020
accepted:
28
10
2020
pubmed:
2
12
2020
medline:
16
11
2021
entrez:
1
12
2020
Statut:
ppublish
Résumé
Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typically associated with biallelic C19orf12 variants. Here we describe a new and review candidate previous monoallelic de novo C19orf12 variants to define loss of function mutations located in the putative non-membrane spanning C19orf12 isoform as the potential basis of monoallelic MPAN.
Identifiants
pubmed: 33260061
pii: S1353-8020(20)30842-7
doi: 10.1016/j.parkreldis.2020.10.041
pii:
doi:
Substances chimiques
C19orf12 protein, human
0
Membrane Proteins
0
Mitochondrial Proteins
0
Protein Isoforms
0
Types de publication
Case Reports
Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
84-86Subventions
Organisme : Medical Research Council
ID : G1001931
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1002279
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 216279/Z/19/Z
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : UM1 HG006542
Pays : United States
Informations de copyright
Copyright © 2020. Published by Elsevier Ltd.