Results 61 to 70 of about 6,761,337 (191)

A single transcription factor is sufficient to induce and maintain secretory cell architecture [PDF]

, 2017
We hypothesized that basic helix–loop–helix (bHLH) MIST1 (BHLHA15) is a “scaling factor” that universally establishes secretory morphology in cells that perform regulated secretion.
Blanc, Valerie, Davidson, Nicholas O, Fitzpatrick, James A.J., Jin, Ramon U, Joens, Matthew S, Karki, Anju, Konieczny, Stephen F, Liu, Dengqun, Lo, Hei-Yong G, Madison, Blair B, Mills, Jason C, Sibbel, Greg, Zhang, Bo   +12 more
core   +2 more sources

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey

Molecular Genetics and Metabolism Reports, 2023
Background: Cerebral organic acid disorders are progressive neurometabolic diseases characterized by neurologic dysfunction. Glutaric aciduria type I (GA-I) and L-2-hydroxyglutaric aciduria (L2HGA) are the main cerebral organic acid disorders.
Ayse Ergül Bozaci, Esra Er, Aysel Tekmenuray Ünal, İbrahim Taş, Ercan Ayaz, Mehmet Nuri Ozbek, Asude Durmaz, Ayçe Aykut, Melis Kose   +8 more
doaj   +1 more source

Metabolic re-wiring of isogenic breast epithelial cell lines following epithelial to mesenchymal transition. [PDF]

, 2017
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesEpithelial to mesenchymal transition (EMT) has implications in tumor progression
Barkovskaya, Anna, Choudhary, Kumari Sonal, Gudjonsson, Thorarinn, Gudmundsson, Steinn, Halldorsson, Skarphedinn, Hilmarsdottir, Bylgja, Knutsen, Erik, Magnusdottir, Manuela, Mælandsmo, Gunhild M, Perander, Maria, Rohatgi, Neha, Rolfsson, Óttar   +11 more
core   +3 more sources

Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico

Molecular Genetics and Metabolism Reports, 2019
Biallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the ...
Felix-Julian Campos-Garcia, Oscar F. Chacon-Camacho, Silvina Contreras-Capetillo, Marisa Cruz-Aguilar, Carolina E. Medina-Escobedo, Claudia M. Moreno-Graciano, Agustín Rodas, Luz del Alba Herrera-Perez, Juan C. Zenteno   +8 more
doaj   +1 more source

Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma

JIMD Reports, 2021
A 4‐year‐old girl was referred for reassessment of dyskinetic cerebral palsy. Initial investigations in her country of birth, India, had not yielded a diagnosis. MRI brain in infancy revealed bilateral putamen hyperintensity.
Jason Foran, Michael Moore, Ellen Crushell, Ina Knerr, Niamh McSweeney   +4 more
doaj   +1 more source

Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation—Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients

International Journal of Molecular Sciences, 2020
Riboflavin is the biological precursor of two important flavin cofactors—flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN)—that are critical prosthetic groups in several redox enzymes.
J. V. Ribeiro, C. Gomes, Bárbara J Henriques   +2 more
semanticscholar   +1 more source

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source

Mechanistic effects of amino acids and glucose in a novel glutaric aciduria type 1 cell model. [PDF]

PLoS ONE, 2014
Acute neurological crises involving striatal degeneration induced by a deficiency of glutaryl-CoA dehydrogenase (GCDH) and the accumulation of glutaric (GA) and 3-hydroxyglutaric acid (3-OHGA) are considered to be the most striking features of glutaric ...
Xi Fu, Hongjie Gao, Fengyan Tian, Jinzhi Gao, Liping Lou, Yan Liang, Qin Ning, Xiaoping Luo   +7 more
doaj   +1 more source

Fasting and Refeeding Mediated Phospholipid Remodeling Plays an Important Role in Improving Meat Quality of Aged Laying Hens

Animal Research and One Health, EarlyView.
ABSTRACT This study explored fasting‐induced physiological remodeling effects on meat quality in aged laying hens. Fasting for 15 days (F15) significantly reduced abdominal fat, intermuscular fat width, subcutaneous fat thickness, and liver index versus pre‐fasting (F0) (p < 0.05), which recovered post‐refeeding.
Xiaoran Zhang, Jun Zhang, Yadong Tian, Donghua Li, Yanhua Zhang, Lujie Zhang, Yujie Gong, Xiangtao Kang, Ruirui Jiang   +8 more
wiley   +1 more source

Glutaric Aciduria type I and acute renal failure — Coincidence or causality?

Molecular Genetics and Metabolism Reports, 2014
Glutaric Aciduria type I (GA-I) is a rare organic acidemia, caused by mutations in the GCDH gene, and characterized by encephalopathic crises with neurological sequelae.
Ben Pode-Shakked, Dina Marek-Yagel, Marina Rubinshtein, Itai M. Pessach, Gideon Paret, Alexander Volkov, Yair Anikster, Danny Lotan   +7 more
doaj   +1 more source