Associated Papers
CHCHD2 rescues the mitochondrial dysfunction in iPSC-derived neurons from patient with Mohr-Tranebjaerg syndrome.
Huang Y et al.
Cell Death & Disease, 2025
Reduced mitochondrial size in hippocampus and psychiatric behavioral changes in the mutant mice with homologous mutation of Timm8a1-I23fs49X.
Ouattara N et al.
Frontiers in Cellular Neuroscience, 2022
Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.
Palmer CS et al.
Febs Letters, 2021
Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.
Wang H et al.
Bmc Medical Genetics, 2019
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
Ha AD et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.
Engl G et al.
Human Molecular Genetics, 2012
Mitochondrial protein import and human health and disease.
MacKenzie JA et al.
Biochimica Et Biophysica Acta, 2007
The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space.
Hofmann S et al.
The Journal of Biological Chemistry, 2002
The Tim9p-Tim10p complex binds to the transmembrane domains of the ADP/ATP carrier.
Curran SP et al.
The Embo Journal, 2002
Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex.
Roesch K et al.
Human Molecular Genetics, 2002
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.
Tranebjaerg L et al.
European Journal of Human Genetics : Ejhg, 2000
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