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Title:

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

Document type:
Article; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Author(s):
Zech, Michael; Kopajtich, Robert; Steinbrücker, Katja; Bris, Céline; Gueguen, Naig; Feichtinger, René G; Achleitner, Melanie T; Duzkale, Neslihan; Périvier, Maximilien; Koch, Johannes; Engelhardt, Harald; Freisinger, Peter; Wagner, Matias; Brunet, Theresa; Berutti, Riccardo; Smirnov, Dmitrii; Navaratnarajah, Tharsini; Rodenburg, Richard J T; Pais, Lynn S; Austin-Tse, Christina; O'Leary, Melanie; Boesch, Sylvia; Jech, Robert; Bakhtiari, Somayeh; Jin, Sheng Chih; Wilbert, Friederike; Kruer, Michae...     »
Abstract:
OBJECTIVE: ATP synthase (ATPase) is responsible for the majority of ATP production. Nevertheless, disease phenotypes associated with mutations in ATPase subunits are extremely rare. We aimed at expanding the spectrum of ATPase-related diseases. METHODS: Whole-exome sequencing in cohorts with 2,962 patients diagnosed with mitochondrial disease and/or dystonia and international collaboration were used to identify deleterious variants in ATPase-encoding genes. Findings were complemented by transcri...     »
Journal title abbreviation:
Ann Neurol
Year:
2022
Journal volume:
91
Journal issue:
2
Pages contribution:
225-237
Fulltext / DOI:
doi:10.1002/ana.26293
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/34954817
Print-ISSN:
0364-5134
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann); Lehrstuhl für Neurogenetik (N.N.)
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