Molecular pathophysiology of human MICU1 deficiency.
Mitochondrial degeneration
Spectrin
lymphoblastoid cell proteomics
metabolic diseases
mitochondrial myopathy
Journal
Neuropathology and applied neurobiology
ISSN: 1365-2990
Titre abrégé: Neuropathol Appl Neurobiol
Pays: England
ID NLM: 7609829
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
revised:
07
09
2020
received:
05
11
2019
accepted:
14
09
2020
pubmed:
12
1
2021
medline:
29
1
2022
entrez:
11
1
2021
Statut:
ppublish
Résumé
MICU1 encodes the gatekeeper of the mitochondrial Ca Molecular genetic studies along with proteomic profiling, electron-, light- and Coherent anti-Stokes Raman scattering microscopy and immuno-based studies of protein abundances and Ca We describe two patients carrying MICU1 mutations, two nonsense (c.52C>T; p.(Arg18*) and c.553C>T; p.(Arg185*)) and an intragenic exon 2-deletion presenting with ataxia, developmental delay and early onset myopathy, clinodactyly, attention deficits, insomnia and impaired cognitive pain perception. Muscle biopsies revealed signs of dystrophy and neurogenic atrophy, severe mitochondrial perturbations, altered Golgi structure, vacuoles and altered lipid homeostasis. Comparative mitochondrial Ca Our findings (i) link dysregulation of mitochondrial Ca
Substances chimiques
Calcium-Binding Proteins
0
Cation Transport Proteins
0
MICU1 protein, human
0
Mitochondrial Membrane Transport Proteins
0
Calcium
SY7Q814VUP
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
840-855Subventions
Organisme : Medical Research Council
ID : MR/N025431/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N010035/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1000848
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N025431/2
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 109915/Z/15/Z
Pays : United Kingdom
Organisme : European Research Council
ID : 309548
Pays : International
Organisme : Medical Research Council
ID : MR/V009346/1
Pays : United Kingdom
Organisme : NIGMS NIH HHS
ID : R01 GM102724
Pays : United States
Informations de copyright
© 2021 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society.
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