Associated Papers
Expanding the Clinical, Pathological, and Molecular Phenotypes of Tetratricopeptide 19 (TTC19) Gene Mutations: A Case Report from India.
Farsana MK et al.
Neurology India, 2025
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.
Xuan X et al.
Cns Neuroscience & Therapeutics, 2024
Inhibition of ATP synthase reverse activity restores energy homeostasis in mitochondrial pathologies.
Acin-Perez R et al.
The Embo Journal, 2023
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction.
Peruzzo R et al.
Nature Communications, 2021
A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment.
Habibzadeh P et al.
Frontiers in Neurology, 2019
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.
Mordaunt DA et al.
American Journal of Medical Genetics. Part A, 2015
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Koch J et al.
Orphanet Journal of Rare Diseases, 2015
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
Kunii M et al.
Journal of Human Genetics, 2015
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.
Ardissone A et al.
Jimd Reports, 2015
Nuclear gene mutations as the cause of mitochondrial complex III deficiency.
Fernández-Vizarra E et al.
Frontiers in Genetics, 2015
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.
Morino H et al.
Bmc Neurology, 2014
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
Ghezzi D et al.
Nature Genetics, 2011
[Complex III deficiency due to mutations in the cytochrome b gene].
Ishii A et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
Respiratory complex III dysfunction in humans and the use of yeast as a model organism to study mitochondrial myopathy and associated diseases.
Meunier B et al.
Biochimica Et Biophysica Acta, 0