Results 21 to 30 of about 6,761,337 (191)

A novel splice GCDH variant and analysis of splicing variants in glutaric aciduria type I

Egyptian Journal of Medical Human Genetics
Objectives Glutaric aciduria type I (GA-I) is an inborn error of metabolism caused by biallelic variants in the GCDH gene, disrupting lysine and tryptophan catabolism.
Nasrin Zamani, Mohammadi Sarband, Mirab Samiee, Amirhassan Rabbani, Bahman Akbari, Nejat Mahdieh, Bahareh Rabbani   +6 more
doaj   +2 more sources

Genetic analysis and prenatal diagnosis of novel GCDH variant responsible for glutaric aciduria type Ⅰ [PDF]

Xin yixue, 2022
Objective To identify pathogenic gene variants of glutaric aciduria typeⅠ (GAⅠ) and provide reference for prenatal diagnosis of this disease. Methods Genomic DNA was extracted from the family members of a suspected case of GAⅠ. Whole exome sequencing was
Dong Xingsheng, Wang Degang, Li Zhiming, Xiong Yi, Man Tingting
doaj   +1 more source

Mendelian Randomization and Bioinformatics Analysis Reveal the Potential Protective Role of Metformin in Primary Liver Cancer. [PDF]

Food Sci Nutr
Using two‐sample Mendelian randomization and bioinformatics, this study found metformin associated with reduced primary liver cancer (PLC) risk (p = 0.026), without links to HCC/ICC. Key genes (e.g., DDX52, KIF11) and pathways (cGMP‐PKG signaling, fatty acid metabolism) were identified.
Ma Y, Qi J, Chen Z, Zhang Y, Liu K, Suo J, Chen B, Bu Y.   +7 more
europepmc   +2 more sources

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias. [PDF]

Clin Genet
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Yin K, Qi Q.
europepmc   +2 more sources

Treatment of glutaric aciduria type I (GA-I) via intracerebroventricular delivery of GCDH

Fundamental Research, 2022
Glutaric aciduria type I (GA-I) is an autosomal recessive genetic disorder caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Patients who do not receive proper treatment may die from acute encephalopathic crisis.
Lu Guo, Zhikun Li, Yuhuan Li, Bin Qu, Guanyi Jiao, Chen Liang, Zongbao Lu, Xin-Ge Wang, Cheng Huang, Hongwei Du, Jianmin Liang, Qi Zhou, Wei Li   +12 more
doaj   +1 more source

A Genetically Encoded Biosensor for Characterizing Transport and Metabolism of Glutarate. [PDF]

Adv Sci (Weinh)
Here, a genetically encoded glutarate biosensor, Glusor, is developed based on transcriptional regulator CsiR. Glusor can quantify glutarate concentrations with good accuracy and precision. Then, the role of KgtP and YnfM are identified and characterized by using Glusor. Glusor also allows glutarate spatiotemporal resolution in live cells, facilitating
Gao K, Zhang H, Liu Y, Xu X, Liu W, Kang Z, Xu R, Hou S, Han P, Lü C, Ma C, Xu P, Gao C.   +12 more
europepmc   +2 more sources

Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins. [PDF]

PLoS ONE, 2014
Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes in the mitochondrial matrix. GA1 patients are prone to the
Jessica Schmiesing, Hartmut Schlüter, Kurt Ullrich, Thomas Braulke, Chris Mühlhausen   +4 more
doaj   +1 more source

Mendelian Randomization Analysis of Mitochondria-Related Genes and Screening of Prognostic Genes in Colorectal Cancer. [PDF]

Cancer Med
ABSTRACT Background Mitochondria have been linked with inflammatory colorectal cancer (CRC) development; however, the association between mitochondria‐related genes (MRGs) and CRC remains unknown. Aims To explore the causal relationship between MRGs and CRC, screen prognostic genes, conduct drug prediction analyses, and investigate the correlations ...
Zhu L, Huang X, Zhang F, Yang J, Xu Z.
europepmc   +2 more sources

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1. [PDF]

J Inherit Metab Dis
ABSTRACT Glutaric aciduria type 1 (GA1) is a neurometabolic disorder characterized by striatal injury in infancy and extrastriatal central nervous system abnormalities, the latter depending on the biochemical subtype. Whether the peripheral nervous system (PNS) is also affected has not been systematically studied.
Preisner F, Garbade SF, Harting I, Wortmann SB, Mühlhausen C, Heiland S, Bendszus M, Kölker S, Boy N.   +8 more
europepmc   +2 more sources

Effects of targeted suppression of glutaryl-CoA dehydrogenase by lentivirus-mediated shRNA and excessive intake of lysine on apoptosis in rat striatal neurons. [PDF]

PLoS ONE, 2013
In glutaric aciduria type 1 (GA1), glutaryl-CoA dehydrogenase (GCDH) deficiency has been shown to be responsible for the accumulation of glutaric acid and striatal degeneration.
Jinzhi Gao, Cai Zhang, Xi Fu, Qin Yi, Fengyan Tian, Qin Ning, Xiaoping Luo   +6 more
doaj   +1 more source