Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor

(2009) P. Goffrini et al.   HUMAN MOLECULAR GENETICS

Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II

(2009) Shunsaku Kaji et al.   MOLECULAR GENETICS AND METABOLISM

Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome

(2008) Antonella Spinazzola et al.   ARCHIVES OF NEUROLOGY

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

(2008) Carlo Viscomi et al.   HUMAN MOLECULAR GENETICS

Supercomplex organization of the oxidative phosphorylation enzymes in yeast mitochondria

(2008) Rosemary A. Stuart   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

(2008) Rossella Parini et al.   JOURNAL OF HEPATOLOGY

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form

(2008) Aleix Navarro-Sastre et al.   MOLECULAR GENETICS AND METABOLISM