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Items: 4

Select item 101589491.

A neuron‐specific Isca1 knockout rat developments multiple mitochondrial dysfunction syndromes

Hanxuan Sheng, Dan Lu, Xiaolong Qi, Yahao Ling, Jing Li, Xu Zhang, Wei Dong, Wei Chen, Shan Gao, Xiang Gao, Li Zhang, Lianfeng Zhang

Animal Model Exp Med. 2023 Apr; 6(2): 155–167. Published online 2023 May 4. doi: 10.1002/ame2.12318

PMCID:: PMC10158949

Abstract Article PDF–20M

Select item 84286842.

Allele-specific mitochondrial stress induced by Multiple Mitochondrial Dysfunctions Syndrome 1 pathogenic mutations modeled in Caenorhabditis elegans

Peter A. Kropp, Jing Wu, Michael Reidy, Sanjay Shrestha, Kyle Rhodehouse, Philippa Rogers, Michael N. Sack, Andy Golden

PLoS Genet. 2021 Aug; 17(8): e1009771. Published online 2021 Aug 27. doi: 10.1371/journal.pgen.1009771

PMCID:: PMC8428684

Abstract Article PDF–3.2M

Select item 60617013.

A novel complex neurological phenotype due to a homozygous mutation in FDX2

Juliana Gurgel-Giannetti, David S Lynch, Anderson Rodrigues Brandão de Paiva, Leandro Tavares Lucato, Guilherme Yamamoto, Christer Thomsen, Somsuvro Basu, Fernando Freua, Alexandre Varella Giannetti, Bruno Della Ripa de Assis, Mara Dell Ospedale Ribeiro, Isabella Barcelos, Katiane Sayão Souza, Fernanda Monti, Uirá Souto Melo, Simone Amorim, Leonardo G L Silva, Lúcia Inês Macedo-Souza, Angela M Vianna-Morgante, Michio Hirano, Marjo S Van der Knaap, Roland Lill, Mariz Vainzof, Anders Oldfors, Henry Houlden, Fernando Kok

Brain. 2018 Aug; 141(8): 2289–2298. Published online 2018 Jul 13. doi: 10.1093/brain/awy172

PMCID:: PMC6061701

Abstract Article PDF–711K

Select item 42220694.

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Sacha Ferdinandusse, Hans R Waterham, Simon JR Heales, Garry K Brown, Iain P Hargreaves, Jan-Willem Taanman, Roxana Gunny, Lara Abulhoul, Ronald JA Wanders, Peter T Clayton, James V Leonard, Shamima Rahman

Orphanet J Rare Dis. 2013; 8: 188. Published online 2013 Dec 4. doi: 10.1186/1750-1172-8-188