Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase

(2015) R. Hinttala et al.   HUMAN MOLECULAR GENETICS

Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease

(2015) Joaquin A. Pena et al.   JOURNAL OF CHILD NEUROLOGY

VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies

(2014) Daria Diodato et al.   HUMAN MUTATION

White Matter Consequences of Retinal Receptor and Ganglion Cell Damage

(2014) S. Ogawa et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Biochemical Characterization of Pathogenic Mutations in Human Mitochondrial Methionyl-tRNA Formyltransferase

(2014) Akesh Sinha et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

(2013) Vivienne C.M. Neeve et al.   MITOCHONDRION

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

(2013) Tobias B. Haack et al.   MOLECULAR GENETICS AND METABOLISM

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

(2012) Marjan E. Steenweg et al.   BRAIN

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

(2012) Tobias B Haack et al.   JOURNAL OF MEDICAL GENETICS

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

(2011) Elena J. Tucker et al.   Cell Metabolism

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

(2010) John P. Kemp et al.   BRAIN

Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy

(2010) Valeria Barcella et al.   HUMAN BRAIN MAPPING

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

(2010) Paulien Smits et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Clinical and neuropathological findings in patients with TACO1 mutations

(2010) Jürgen Seeger et al.   NEUROMUSCULAR DISORDERS

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

(2009) Woranontee Weraarpachai et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols