Results 131 to 140 of about 1,137 (152)

Isolation, sequence identification, and tissue expression profile of 3 novel porcine genes:NCF2, BCKDHB andBCKDHA

Journal of Applied Genetics, 2009
The complete coding sequences of porcine genes NCF2, BCKDHB and BCKDHA were amplified by using reverse transcriptase polymerase chain reaction (RT-PCR), basing on the conserved coding sequence information of humans or other mammals. These 3 novel porcine genes were then assigned GeneIDs: 100142665, 100142669 and 100142666.
G Y Liu
exaly   +4 more sources

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Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review

Journal of Pediatric Endocrinology and Metabolism, 2021
Abstract Objectives To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cases of MSUD reported in the available Chinese literature. Methods Clinical data of a case of a
Xian Shen
exaly   +3 more sources

A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)

Journal of Pediatric Endocrinology and Metabolism, 2015
AbstractMaple syrup urine disease (MSUD) is an autosomal recessive metabolic disease caused by mutations in ...
Soudeh Ghafouri-Fard, Mohammad Miryounesi   +1 more
exaly   +3 more sources

A Novel Mutation in the BCKDHB Gene Causes in an Iranian Child Classic Maple Syrup Urine Disease [PDF]

Zahedan Journal of Researches in Medical Sciences, 2016
Background: Maple syrup urine disease (MSUD) is a rare metabolic disorder caused by deficiency in branched chain alpha-keto acid dehydrogenase complex (BCKD). Methods: In this study, the coding regions and flanking splice sites of the BCKDHA, BCKDHB, DBT and DLD genes have been sequenced in an Iranian 3 years old girl.
Hamid Galehdari, Mohammad Hamid, Gholam Reza Shariati   +2 more
exaly   +2 more sources

BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease

Science Translational Medicine
Classic maple syrup urine disease (MSUD) results from biallelic mutations in genes that encode the branched-chain α-ketoacid dehydrogenase E1α (BCKDHA), E1β (BCKDHB), or dihydrolipoamide branched-chain transacylase (DBT) subunits, which interact to form ...
Toloo Taghian, Dan Wang, Jun Xie
exaly   +2 more sources

Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease

Metabolic Brain Disease, 2017
Maple syrup urine disease (MSUD) is a rare autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids (BCAAs). Classic form of MSUD (CMSUD) is caused by mutations in BCKDHA, BCKDHB, DBT genes mostly. In this study, we analyzed the clinical and genetic characteristics of two patients with CMSUD.
Huiying Sheng, Yongxian Shao
exaly   +3 more sources

Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease

Journal of Pediatric Endocrinology and Metabolism, 2021
Abstract Background Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by deficiency of the branched-chain α-ketoacid dehydrogenase complex. Mutations in the BCKDHA, BCKDHB and DBT genes are responsible for MSUD.
Jianmei, Yang, Jianjun, Xiu, Yan, Sun, Fan, Liu, Xiaohong, Shang, Guimei, Li   +5 more
openaire   +2 more sources

Regional assignment of two genes of the human branched-chain α-keto acid dehydrogenase complex: The E1β gene (BCKDHB) to chromosome 6p21–22 and the E2 gene (DBT) to chromosome 1p31

Genomics, 1991
Maple syrup urine disease (MSUD) is caused by the deficiency of the mitochondrial branched-chain alpha-keto acid dehydrogenase complex. The multienzyme complex is a macromolecule (Mr 4 X 10(6] consisting of at least six distinct subunits. In this study, the human E1 beta gene (BCKDHB) has been localized to human chromosome 6 by hybrid somatic cell ...
David T Chuang, Rody P Cox, Jacinta L Chuang   +2 more
exaly   +3 more sources

Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease

Metabolic Brain Disease, 2015
Intermittent maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by a deficiency of branched chain α-ketoacid dehydrogenase (BCKD) complex. In contrast to classic MSUD, children with the intermittent form usually have an atypical clinical manifestation.
Yi, Guo, Liu, Liming, Li, Jiang
exaly   +3 more sources

Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD)

Gene, 2012
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder that is caused by mutations in the subunits of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. BCKD is a mitochondrial complex encoded by four nuclear genes (BCKDHA, BCKDHB, DBT, and DLD) and is involved in the metabolism of branched-chain amino acids (BCAAs).
Yue-Ping, Wang, Man-Long, Qi, Ting-Ting, Li, Yun-Jing, Zhao   +3 more
openaire   +2 more sources