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Titel:

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Article
Autor(en):
Koch, Johannes; Feichtinger, René G; Freisinger, Peter; Pies, Mechthild; Schrödl, Falk; Iuso, Arcangela; Sperl, Wolfgang; Mayr, Johannes A; Prokisch, Holger; Haack, Tobias B
Abstract:
Mitochondria are dynamic organelles which undergo continuous fission and fusion to maintain their diverse cellular functions. Components of the fission machinery are partly shared between mitochondria and peroxisomes, and inherited defects in two such components (dynamin-related protein (DRP1) and ganglioside-induced differentiation-associated protein 1 (GDAP1)) have been associated with human disease. Deficiency of a third component (mitochondrial fission factor, MFF) was recently reported in o...     »
Zeitschriftentitel:
J Med Genet
Jahr:
2016
Band / Volume:
53
Heft / Issue:
4
Seitenangaben Beitrag:
270-8
Sprache:
eng
Volltext / DOI:
doi:10.1136/jmedgenet-2015-103500
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/26783368
Print-ISSN:
0022-2593
TUM Einrichtung:
Institut für Humangenetik
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