A Homozygous Mutation inLYRM7/MZM1LAssociated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells

(2012) Ester Sánchez et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mitochondrial Complex III Deficiency Caused by a HomozygousUQCRC2Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

(2012) Noriko Miyake et al.   HUMAN MUTATION

Late-Stage Maturation of the Rieske Fe/S Protein: Mzm1 Stabilizes Rip1 but Does Not Facilitate Its Translocation by the AAA ATPase Bcs1

(2012) T.-Z. Cui et al.   MOLECULAR AND CELLULAR BIOLOGY

The LYR Protein Mzm1 Functions in the Insertion of the Rieske Fe/S Protein in Yeast Mitochondria

(2011) A. Atkinson et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

(2011) Daniele Ghezzi et al.   NATURE GENETICS

Mzm1 Influences a Labile Pool of Mitochondrial Zinc Important for Respiratory Function

(2010) Aaron Atkinson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

In vivo analysis of mtDNA replication defects in yeast

(2010) Enrico Baruffini et al.   METHODS

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