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Titel:

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

Dokumenttyp:
Article; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Autor(en):
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...     »
Zeitschriftentitel:
Ann Neurol
Jahr:
2022
Band / Volume:
91
Heft / Issue:
2
Seitenangaben Beitrag:
225-237
Volltext / DOI:
doi:10.1002/ana.26293
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/34954817
Print-ISSN:
0364-5134
TUM Einrichtung:
Institut für Humangenetik (Prof. Winkelmann); Lehrstuhl für Neurogenetik (N.N.)
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