Results 81 to 90 of about 4,483 (224)

Glutaryl-CoA dehydrogenase misfolding in glutaric acidemia type 1 [PDF]

, 2023
Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) deficiency. The high number of missense variants associated with the disease and their impact on GCDH activity suggest that disturbed protein ...
Barroso, Madalena, Danecka, Marta K., Gersting, Søren W., Gertzen, Marcus, Muntau, Ania C., Preisler, Heike, Puchwein-Schwepcke, Alexandra F., Reiss, Dunja D., Sturm, Andreas   +8 more
core   +1 more source

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

Characterization of yeast genes homologous to human genes involved in mitochondrial and peroxisomal function [PDF]

, 2005
Poster da comunicação apresentada no "Congresso Nacional de Microbiologia e Biotecnologia (Micro’05-Biotec’05)", na Póvoa de Varzim, Portugal, em 2005.The Saccharomyces cerevisiae genes YPR004c, YGR207c, YOR356w and YDR036c homologous to human genes ...
Oliveira, Rui Pedro Soares de, Rodrigues, Aurora, Vasconcelos, Filipe   +2 more
core  

A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Cell trafficking disorders(CTDs) are rare, heterogeneous inherited conditions marked by impaired intracellular transport mechanisms such as vesicular trafficking, cytoskeletal dynamics, and organelle interactions. Although clinical awareness is increasing, CTDs are often underdiagnosed due to phenotypic overlap with mitochondrial, lysosomal ...
Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Kanay Yararbaş, Tamer Çelik, Esra Sarıgeçili, Habibe Koç Uçar   +6 more
wiley   +1 more source

Primary hyperoxaluria Type 1: organic aciduria diagnosed in plasma [PDF]

, 2013
Background: Primary hyperoxaluria Type 1 (PH1) is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase.
Dias, Aureliano, Rodrigues, Marilia, Valongo, Carla, Vilarinho, Laura   +3 more
core  

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

Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening

Journal of Inherited Metabolic Disease, 2021
Subdural hematoma (SDH) was initially reported in 20% to 30% of patients with glutaric aciduria type 1 (GA1). A recent retrospective study found SDH in 4% of patients, but not in patients identified by newborn screening (NBS).
N. Boy, A. Mohr, S. Garbade, P. Freisinger, Jana Heringer-Seifert, A. Seitz, S. Kölker, I. Harting   +7 more
semanticscholar   +1 more source

A Genetically Encoded Biosensor for Characterizing Transport and Metabolism of Glutarate

Advanced Science, Volume 12, Issue 42, November 13, 2025.
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
Kaiyu Gao, Hui Zhang, Yidong Liu, Xianzhi Xu, Wei Liu, Zhaoqi Kang, Rong Xu, Shuang Hou, Ping Han, Chuanjuan Lü, Cuiqing Ma, Ping Xu, Chao Gao   +12 more
wiley   +1 more source

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

International Journal of Neonatal Screening, 2021
Glutaric aciduria type I (GA-1) is a rare autosomal-recessive disorder of the degradation of the amino acids lysine and tryptophan caused by mutations of the GCDH gene encoding glutaryl-CoA-dehydrogenase.
Johannes Spenger, Esther M. Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Wolfgang Sperl, Martin Preisel, Katharina A. Schiergens, Vassiliki Konstantopoulou, Wulf Röschinger, Johannes Häberle, Thomas Schmitt-Mechelke, Saskia B. Wortmann, Ralph Fingerhut   +13 more
doaj   +1 more source

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Imaging literature on propionic acidemia (PA) is predominantly concerned with deep gray matter changes. In order to investigate the spectrum and patterns of MRI changes, 45 MRI scans of 13 patients (0.31–33.2 years) were systematically analyzed. Deep and cortical gray matter changes were associated with acute metabolic decompensation. Striatum
Hannah Fels‐Palesandro, Friederike Hörster, Dorothea Haas, Florian Gleich, Sven F. Garbade, Stefan Kölker, Inga Harting   +6 more
wiley   +1 more source