Results 1 to 10 of about 1,169 (119)

BCKDH kinase promotes hepatic gluconeogenesis independent of BCKDHA [PDF]

Cell Death and Disease
Elevated circulating branched-chain amino acids (BCAAs) are tightly linked to an increased risk in the development of type 2 diabetes mellitus. The rate limiting enzyme of BCAA catabolism branched-chain α-ketoacid dehydrogenase (BCKDH) is phosphorylated ...
Jian-min Liu, Xiao Wang, Jieli Lu
exaly   +3 more sources

Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report

JIMD Reports, 2022
Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder of branched‐chain amino acid metabolism caused by mutations in BCKDHA, BCKDHB, and DBT that encode the E1α, E1β, and E2 subunits of the branched‐chain α‐ketoacid ...
Hidehito Inagaki, Tetsushi Yoshikawa, Katsuyuki Yokoi   +2 more
exaly   +2 more sources

Nucleotides Variability of Branched Chain Ketoacid Dehydrogenase E1-α Polypeptide (BCKDHA) Gene on Madura Cattle [PDF]

BIO Web of Conferences
Madura cattle is one of Indonesian native cattle which has physical strength and is highly adaptable under dry climates. Branched Chain α-Keto Dehydrogenase (BCKD) complex bound to mitochondrial inner membrane and catalyzes branched-chain amino acid ...
Achmad Farajallah
exaly   +2 more sources

Molecular Cloning, Sequence Identification and Tissue Expression Profile of Three Novel Sheep (Ovis aries) Genes - BCKDHA, NAGA and HEXA

Biological Research, 2009
The complete coding sequences of three sheep genes- BCKDHA, NAGA and HEXA were amplified using the reverse transcriptase polymerase chain reaction (RT-PCR), based on the conserved sequence information of the mouse or other mammals.
S Z Gao, G Y Liu
exaly   +2 more sources

Molecular basis of various forms of maple syrup urine disease in Chilean patients

Molecular Genetics & Genomic Medicine, 2021
Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched‐chain α‐keto acid dehydrogenase (BCKD) enzymatic complex.
Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson A. Silva Jr, Daniel F. Garcia, Greice A. Molfetta, Adriana A. Marques, Ida Vanessa Döederlein Schwartz, V. Cornejo, Valerie Hamilton, Gabriela Castro, Fernanda Sperb‐Ludwig, Ester S. Borges, José S. Camelo Jr   +12 more
doaj   +1 more source

Comprehensive analyses of the microRNA–messenger RNA–transcription factor regulatory network in mouse and human renal fibrosis

Frontiers in Genetics, 2022
Objective: The aim of this study was to construct a microRNA (miRNA)–messenger RNA (mRNA)–transcription factor (TF) regulatory network and explore underlying molecular mechanisms, effective biomarkers, and drugs in renal fibrosis (RF).Methods: A total of
Le Deng, Gaosi Xu, Qipeng Huang
doaj   +1 more source

Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population

Scientific Reports, 2021
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China. In this report, 8 patients (4 females and 4 males)
Xiaohua Fang, Xiaofan Zhu, Yin Feng, Ying Bai, Xuechao Zhao, Xiangdong Kong, Ning Liu   +6 more
doaj   +1 more source

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Orphanet Journal of Rare Diseases, 2020
Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex.
Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo   +17 more
doaj   +1 more source

PPM1K mediates metabolic disorder of branched-chain amino acid and regulates cerebral ischemia-reperfusion injury by activating ferroptosis in neurons

Cell Death and Disease, 2023
Ischemic stroke is a neurological disorder caused by vascular stenosis or occlusion, accounting for approximately 87% of strokes. Clinically, the most effective therapy for ischemic stroke is vascular recanalization, which aims to rescue neurons ...
Tao Li, Lili Zhao, Ye Li, Meijuan Dang, Jialiang Lu, Ziwei Lu, Qiao Huang, Yang Yang, Yuxuan Feng, Xiaoya Wang, Yating Jian, Heying Wang, Yingying Guo, Lei Zhang, Yu Jiang, Songhua Fan, Shengxi Wu, Hong Fan, Fang Kuang, Guilian Zhang   +19 more
doaj   +1 more source

Pyridostigmine Protects Against Diabetic Cardiomyopathy by Regulating Vagal Activity, Gut Microbiota, and Branched-Chain Amino Acid Catabolism in Diabetic Mice

Frontiers in Pharmacology, 2021
The disruption of gut microbes is associated with diabetic cardiomyopathy, but the mechanism by which gut microbes affect cardiac damage remains unclear.
Yang Yang, Ming Zhao, Xi He, Qing Wu, Dong-Ling Li, Wei-Jin Zang   +5 more
doaj   +1 more source