LYRM7mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Whole exome sequencing of suspected mitochondrial patients in clinical practice

(2015) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

(2015) Johannes Koch et al.   Orphanet Journal of Rare Diseases

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

(2015) Erika Fernández-Vizarra et al.   Frontiers in Genetics

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

(2014) Laura Melchionda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial dysfunction in central nervous system white matter disorders

(2014) Laia Morató et al.   GLIA

Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

(2013) Pauline Gaignard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Federica Invernizzi et al.   HUMAN MUTATION

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

(2013) Célia Nogueira et al.   NEUROGENETICS

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

(2013) S. H. Kevelam et al.   NEUROLOGY

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

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

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

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Biogenesis of the cytochrome bc1 complex and role of assembly factors

(2011) Pamela M. Smith et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

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

Synthesis of cytochrome c oxidase subunit 1 is translationally downregulated in the absence of functional F1F0-ATP synthase

(2009) Ileana C. Soto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

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

Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

(2008) Ortal Barel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MitoP2: An Integrative Tool for the Analysis of the Mitochondrial Proteome

(2008) Matthias Elstner et al.   MOLECULAR BIOTECHNOLOGY