Results 81 to 90 of about 3,112 (224)

A drug repurposing screen reveals dopamine signaling as a critical pathway underlying potential therapeutics for the rare disease DPAGT1-CDG.

PLoS Genetics
DPAGT1-CDG is a Congenital Disorder of Glycosylation (CDG) that lacks effective therapies. It is caused by mutations in the gene DPAGT1 which encodes the first enzyme in N-linked glycosylation.
Hans M Dalton, Naomi J Young, Alexys R Berman, Heather D Evans, Sydney J Peterson, Kaylee A Patterson, Clement Y Chow   +6 more
doaj   +1 more source

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

Molecular Genetics and Metabolism Reports, 2014
Congenital Disorder of Glycosylation type Ig (ALG12-CDG) is part of a group of autosomal recessive conditions caused by deficiency of proteins involved in the assembly of dolichol-oligosaccharides used for protein N-glycosylation.
Chaya Murali, James T. Lu, Mahim Jain, David S. Liu, Ralph Lachman, Richard A. Gibbs, Brendan H. Lee, Daniel Cohn, Philippe M. Campeau   +8 more
doaj   +1 more source

Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

Scientific Reports, 2022
We report clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).
Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata   +15 more
doaj   +1 more source

ALG11-CDG syndrome: Expanding the phenotype. [PDF]

, 2019
ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation.
Brown, Candida, Freeze, Hudson H, Gallant, Natalie M, Haanpää, Maria K, Kimonis, Virginia, Muller, Eric A, Ng, Bobby G, Singh, Kathryn E   +7 more
core   +2 more sources

Evolutionary divergence and functional insights into the heteromeric cis‐prenyltransferase of Paramecium tetraurelia

The FEBS Journal, Volume 293, Issue 6, Page 1681-1707, March 2026.
Heteromeric cis‐prenyltransferases (CPT) are indispensable for dolichol synthesis and protein N‐glycosylation in most eukaryotes. The catalytic subunits are strongly conserved throughout evolution, in contrast to the evolutionarily variable accessory subunits. The POC1 protein from Paramecium tetraurelia is the smallest identified CPT‐accessory subunit
Agnieszka Onysk, Kamil Steczkiewicz, Mariusz Radkiewicz, Paweł Link‐Lenczowski, Przemysław Surowiecki, Karolina Sztompka, Kariona A. Grabińska, Jacek K. Nowak, Liliana Surmacz   +8 more
wiley   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient [PDF]

, 2018
Summary: Congenital disorders of glycosylation (CDG) are a family of multisystem inherited disorders caused by defects in the biosynthesis of N- or O-glycans.
Ballhausen, D., Bonafé, L., Hanquinet, S., Henry, H., Kern, I., Newman, C., Rimella-Le-Huu, A., Roulet-Perez, E., Superti-Furga, A.   +8 more
core  

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

Olig2‐specific loss‐of‐function Slc35a2 results in hypomyelination and spontaneous seizures

Epilepsia, Volume 67, Issue 2, Page 950-965, February 2026.
Abstract Objective Malformations of cortical development represent major causes of drug‐resistant epilepsy, with mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy recognized as a distinct pathological entity. Pathogenic X‐linked SLC35A2, encoding the uridine diphosphate–galactose transporter, has been implicated ...
Tiffany M. Bartel, Chaitali Ghosh, Kathryn Bisaha, Jean Khoury, Ashley Nemes‐Baran, Ingmar Blumcke, Imad Najm   +6 more
wiley   +1 more source

Galactose Epimerase Deficiency: Expanding the Phenotype [PDF]

, 2017
Galactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency ...
A Alano, DJ Lefeber, IB Sardharwalla, J Charlwood, J Wasilenko, JB Holton, JB Holton, JH Walter, KK Openo, L Sturiale, M Sarkar, MJ Henderson, R Gitzelmann, SS Sparrow, TM Wohlers   +14 more
core   +1 more source