Results 111 to 120 of about 718 (127)

ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts [PDF]

Scientific Reports, 2019
Ethylmalonic encephalopathy protein 1 (ETHE1) and molybdenum cofactor (MoCo) defciencies are hereditary disorders that afect the catabolism of sulfur-containing amino acids.
Johan Palmfeldt, Peter Wipf, Lina Ghaloul-Gonzalez   +2 more
exaly   +2 more sources

A Turkish Case with Molybdenum Cofactor Deficiency

Nucleosides, Nucleotides and Nucleic Acids, 2006
Molybdenum cofactor deficiency (MIM 252150) is a rare progressive neurodegenerative disorder with about 100 cases reported worldwide. We have identified a male with molybdenum cofactor deficiency and analyzed the molybdenum cofactor synthesis (MOCS) 1 ...
Ali Dursun, H Serap Kalkanoğlu, M Hosoyamada   +2 more
exaly   +2 more sources

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Alternative splicing of the bicistronic gene molybdenum cofactor synthesis 1 (MOCS1) uncovers a novel mitochondrial protein maturation mechanism

Journal of Biological Chemistry, 2020
Simon J Mayr, Guenter Schwarz
exaly  

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2†

Human Mutation, 2011
Rita Hahnewald
exaly  

An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency

Journal of Inherited Metabolic Disease, 2009
M Arenas, A M Marinaki, Lynette D Fairbanks   +2 more
exaly  

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

Human Genetics, 1998
G Kurlemann, Claude Dorche, C Dorche
exaly  

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation

Journal of Inherited Metabolic Disease, 2018
Sarah C Grünert, Jan-bernd Hövener, Simon J Mayr   +2 more
exaly  

Arachnomelia syndrome in Simmental cattle is caused by a homozygous 2-bp deletion in the molybdenum cofactor synthesis step 1 gene (MOCS1)

BMC Genetics, 2011
Kay-Uwe Götz
exaly  

Molybdenum cofactor deficiency: first prenatal genetic analysis

Prenatal Diagnosis, 1999
C Dorche, J Reiss
exaly  

牛蜘蛛腿综合征两个致病位点检测方法的建立

Yi Chuan = Hereditas / Zhongguo Yi Chuan Xue Hui Bian Ji, 2013
Ya-Chun Wang
exaly