Associated Papers
In vitro modelling of the neuropathophysiological features of mitochondrial epilepsy.
Smith LA et al.
Seizure, 2025
Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease.
Molla GK et al.
Frontiers in Neurology, 2025
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT et al.
Journal of Inherited Metabolic Disease, 2024
Human iPSC-derived cerebral organoids model features of Leigh syndrome and reveal abnormal corticogenesis.
Romero-Morales AI et al.
Development (cambridge, England), 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.
Lee IC et al.
Antioxidants (basel, Switzerland), 2021
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Inak G et al.
Nature Communications, 2021
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2013
SURF1-associated Leigh syndrome: a case series and novel mutations.
Lee IC et al.
Human Mutation, 2012
SURF1 missense mutations promote a mild Leigh phenotype.
Piekutowska-Abramczuk D et al.
Clinical Genetics, 2009
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