Open AccessMitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease
Author(s) -
Veronika Boczonadi,
Martin S. King,
Anthony C. Smith,
Monika Oláhová,
Boglárka Bánsági,
Andreas Roos,
Filmon Eyassu,
Christoph H. Borchers,
Venkateswaran Ramesh,
Hanns Lochmüller,
Tuomo Polvikoski,
Roger G. Whittaker,
Angela Pyle,
Helen Griffin,
Robert W. Taylor,
Patrick F. Chinnery,
Alan J. Robinson,
Edmund R.S. Kunji,
Rita Horváth
Publication year - 2018
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2017.251
Subject(s) - spinal muscular atrophy , quinolinic acid , mitochondrion , mitochondrial disease , mitochondrial dna , biology , atrophy , mutation , medicine , pathology , genetics , disease , gene , amino acid , tryptophan
To understand the role of the mitochondrial oxodicarboxylate carrier (SLC25A21) in the development of spinal muscular atrophy-like disease.
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