Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival
TG Hartman, K Yosovich, HG Michaeli, L Blumkin… - neurogenetics, 2020 - Springer
… manifesting as: normal early development, acute infantile … report of a mitochondrial
neurodegenerative disorder due to … A mutation in a mitochondrial targeting peptide has been …
neurodegenerative disorder due to … A mutation in a mitochondrial targeting peptide has been …
Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein
E Lebigot, M Hully, L Amazit, P Gaignard, T Michel… - Mitochondrion, 2020 - Elsevier
… Mutations in genes encoding for NFU1, BOLA3, IBA57, ISCA2 and ISCA1 lead to multiple
mitochondrial dysfunction syndrome (MMDS) types 1 to 5, respectively. In 2017, the first four …
mitochondrial dysfunction syndrome (MMDS) types 1 to 5, respectively. In 2017, the first four …
Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome
F Zhan, X Liu, R Ni, T Liu, Y Cao, J Wu, W Tian… - … Brain Disease, 2022 - Springer
… , which are caused by mutations in NFU1, BOLA3, IBA57, ISCA2, ISCA1 … group of
neurodegenerative disorders related to a defect in … in infant patients (Uziel et al. 2011). A new …
neurodegenerative disorders related to a defect in … in infant patients (Uziel et al. 2011). A new …
Molecular basis of Rare diseases associated to the maturation of mitochondrial [4Fe-4S]-Containing proteins
… , a neurodegenerative disease caused by mutations in frataxin … mitochondrial dysfunction
syndromes (MMDSs) caused by … of this pathogenic mutation on destabilizing the ISCA1-ISCA2 …
syndromes (MMDSs) caused by … of this pathogenic mutation on destabilizing the ISCA1-ISCA2 …
Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review
SH Lang, F Camponeschi, E de Joya… - Genes, 2022 - mdpi.com
… Gly104Cys), in a 2-month-old infant of Cuban descent who … IBA57-[2Fe-2S]-ISCA2 complex
is capable of activating apo … the existence of a putative mutational hotspot, we were unable to …
is capable of activating apo … the existence of a putative mutational hotspot, we were unable to …
Mitochondrial iron-sulfur cluster biogenesis and neurological disorders
A Selvanathan, BP Sankaran - Mitochondrion, 2022 - Elsevier
… associated with such mitochondrial dysfunction; however … MMDS4 (MIM #616370) is caused
by deficiency of ISCA2. … to skeletal muscle in humans: in patient samples mutant mRNA …
by deficiency of ISCA2. … to skeletal muscle in humans: in patient samples mutant mRNA …
A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel ISCA2 Variants, Mimicking Post-Infectious Encephalitis
H Chin, J Cho, WJ Kim, SY Kim, BC Lim… - Child Neurology …, 2023 - journals.sagepub.com
… No evidence of mitochondrial disease other than bilateral optic atrophy was noted. In cases
… In conclusion, MMDS4 should be considered in infantile developmental regression with …
… In conclusion, MMDS4 should be considered in infantile developmental regression with …
A review of multiple mitochondrial dysfunction syndromes, syndromes associated with defective Fe-S protein maturation
E Lebigot, M Schiff, MP Golinelli-Cohen - Biomedicines, 2021 - mdpi.com
… Since 2011, mutations in their genes leading to five multiple … ISCA2 in the maturation of
mitochondrial [4Fe-4S] proteins [94]. Interestingly, mitochondrial morphology with mitochondrial …
mitochondrial [4Fe-4S] proteins [94]. Interestingly, mitochondrial morphology with mitochondrial …
Disorders of oxidative phosphorylation
S Rahman, JA Mayr - … Metabolic Diseases: Diagnosis and Treatment, 2022 - Springer
… The neurodegenerative changes are frequently … iron-sulfur cluster assembly 2 (ISCA2) and
other proteins involved in lipoic … gene defects causing primary mitochondrial disease are rare …
other proteins involved in lipoic … gene defects causing primary mitochondrial disease are rare …
Mitochondrial biology and dysfunction in secondary mitochondrial disease
… mitochondrial disease (SMD) arises due to mutation of … 3) [4Fe-4S] biosynthesis: IBA57,
ISCA1 and ISCA2 facilitate the … severe yet heterogeneous neurodegenerative disorders sharing …
ISCA1 and ISCA2 facilitate the … severe yet heterogeneous neurodegenerative disorders sharing …