Results 1 to 10 of about 11 (11)

Biotin - facts and hopes [PDF]

Farmacja Polska, 2022
Biotin is a vitamin known since the 1930s, a substance necessary for the operation of several enzymes: pyruvate carboxylase, propionyl-CoA carboxylase; β-methylcrossonyl-CoA carboxylase, and acetyl CoA carboxylase.
Aleksandra Kowalska, Julia Bartkiewicz, Katarzyna Dettlaff   +2 more
doaj   +1 more source

A case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.

Acta Medica Iranica, 2021
Pyruvate carboxylase deficiency (PCD) is a rare autosomal recessive defect in a biotin-containing enzyme, Pyruvate carboxylase, which is considered as an enzyme of TCA-cycle regulation, gluconeogenesis, lipogenesis, and biosynthesis of neurotransmitters.
shahin koohmanaee, nejat mahdie, Reza Bayat, fatemeh kharaee, Maryam Shahrokhi, Afagh Hassanzadeh Rad, Saber Najafi Chakoosari, setila dalili   +7 more
doaj   +1 more source

PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report

Frontiers in Pediatrics, 2022
BackgroundPyruvate carboxylase deficiency (PCD; MIM#266150) is a rare autosomal recessive disorder characterized by a wide range of clinical features, including delayed neurodevelopment, elevated pyruvate levels, lactic acidosis, elevated ketone levels ...
DongYing Tao, HuiQin Zhang, Jingmin Yang, HuanHong Niu, JingJing Zhang, Minghua Zeng, ShengQuan Cheng   +6 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line (SHCDNi007-A) from a patient with pyruvate carboxylase deficiency carrying compound heterozygous (c.182 T > C/ c.2581G > A) variants in PC

Stem Cell Research, 2023
Pyruvate carboxylase (PC) deficiency (PCD), due to biallelic PC variants, is a rare inherited metabolic disease, which is characterized by seizures, global developmental delay, as well as lactic acidosis, and elevated plasma pyruvate and alanine levels ...
Jingjing Sun, Pei Lu, Yunlin Shen, Li Ma
doaj  

Compensatory activity of the PC-ME1 metabolic axis underlies differential sensitivity to mitochondrial complex I inhibition

Nature Communications
Deficiencies in the electron transport chain (ETC) lead to mitochondrial diseases. While mutations are distributed across the organism, cell and tissue sensitivity to ETC disruption varies, and the molecular mechanisms underlying this variability remain ...
Lucia del Prado, Myriam Jaraíz-Rodríguez, Mauro Agro, Marcos Zamora-Dorta, Natalia Azpiazu, Manuel Calleja, Mario Lopez-Manzaneda, Jaime de Juan-Sanz, Alba Fernández-Rodrigo, José A. Esteban, Mònica Girona, Albert Quintana, Eduardo Balsa   +12 more
doaj   +1 more source

Deletion of Pyruvate Carboxylase in Tubular Epithelial Cell Promotes Renal Fibrosis by Regulating SQOR/cGAS/STING‐Mediated Glycolysis

Advanced Science
Renal fibrosis is a common pathway involved in the progression of various chronic kidney diseases to end‐stage renal disease. Recent studies show that mitochondrial injury of renal tubular epithelial cells (RTECs) is a crucial pathological foundation for
Hao Huang, Yuanyuan Han, Yan Zhang, Jianhua Zeng, Xin He, Jiawei Cheng, Songkai Wang, Yiwei Xiong, Hongling Yin, Qiongjing Yuan, Ling Huang, Yanyun Xie, Jie Meng, Lijian Tao, Zhangzhe Peng   +14 more
doaj   +1 more source

92 A GLYCOGEN STORAGE DISEASE TYPE I AND III(GSDI, III) AND PYRUVATE CARBOXYLASE DEFICIENCY (PCD): NOCTURNAL GASTRIC DRIP FEEDING VERSUS ADMINISTRATION OF UNCOOKED CORN STARCH! [PDF]

, 1986
Kurt Ullrich, A Van Teeflen-Heithoff
openalex   +1 more source

Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's Disease

, 1979
Beth M Atkin, Neil R.M. Buist, Merton Utter, Andrew B. Leiter, Betty Q. Banker   +4 more
openalex   +1 more source

Pyruvate Carboxylase Deficiency: An Alleged Biochemical Cause of Leigh's Disease

, 1981
Jerome V. Murphy, Fumihide Isohashi, Mitchell B. Weinberg, Merton Utter   +3 more
openalex   +1 more source

Glycogen Storage Disease Type I and III and Pyruvate Carboxylase Deficiency: Results of Long‐Term Treatment with Uncooked Cornstarch

, 1988
Kurt Ullrich, H Schmidt, A. van Teeffelen‐Heithoff   +2 more
openalex   +1 more source