Results 61 to 70 of about 422,094 (137)

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

NGLY1 deficiency - clinical features and therapeutic strategy

Journal of Human Genetics
NGLY1 deficiency is a rare autosomal recessive genetic disorder caused by biallelic mutations of the human NGLY1 gene. NGLY1 encodes the cytosolic peptide:N-glycanase (PNGase; NGLY1 in mammals), which plays essential roles in cytosolic glycan degradation (non-lysosomal glycan degradation), the endoplasmic reticulum (ER)-associated degradation (ERAD) of
Haruhiko Fujihira, Hiroto Hirayama, Tadashi Suzuki   +2 more
openaire   +3 more sources

Comprehensive Pan‐Cancer Analysis of TRNT1 as a Potential Biomarker for Breast Cancer

Journal of Cellular and Molecular Medicine, Volume 29, Issue 18, September 2025.
ABSTRACT TRNT1, an RNA nucleotide transferase, plays a critical role in cellular processes and may be involved in cancer. However, its role in cancer has not been fully explored. This study aims to explore the potential significance of TRNT1 in cancer, particularly in breast cancer (BC) progression and prognosis.
Xinwei Li, Yue Meng, Bing Gu
wiley   +1 more source

An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene

Stem Cell Research, 2019
NGLY1 deficiency is a rare inherited disorder caused by mutations in the NGLY1 gene encoding N-glycanase 1 that is a hydrolase for N-linked glycosylated proteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a
Shu Yang, Yu-Shan Cheng, Rong Li, Manisha Pradhan, Junjie Hong, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matt Might, Steven Rodems, Wei Zheng   +10 more
doaj   +1 more source

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms ranging from ...
Nobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada   +2 more
wiley   +1 more source

Antigen presentation of post‐translationally modified peptides in major histocompatibility complexes

Immunology &Cell Biology, Volume 103, Issue 2, Page 161-177, February 2025.
T cells recognize pathogens and malignantly transformed cells through antigen presentation on major histocompatibility complex molecules. Post‐translational modifications (PTMs) of proteins can alter the peptides presented, influencing immune recognition and disease.
Alexine S de Wit, Frans Bianchi, Geert van den Bogaart   +2 more
wiley   +1 more source

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation [PDF]

, 2017
PurposeThe cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the β-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation.
Schreiber, John M, Zein, Wadih M, Farmer, Cristan A, Krasnewich, Donna, Macnamara, Ellen, Wolfe, Lynne, Lingala, Shilpa, Davids, Mariska, Toro, Camilo, Lehky, Tanya, Thurm, Audrey, Kimonis, Virginia, Lam, Christina, Stratakis, Constantine A, Ferreira, Carlos, Latham, Lea, Baker, Eva H, Lyons, Jonathan J, Ghany, Marc G, Solomon, Beth, Gahl, William A, Rosenzweig, Sergio D, Gropman, Andrea, Brewer, Carmen   +23 more
core   +1 more source

Genetic counseling for congenital disorders of glycosylation (CDG)

Journal of Genetic Counseling, Volume 33, Issue 6, Page 1358-1364, December 2024.
Abstract Congenital disorders of glycosylation (CDGs) are a genetically and clinically diverse group of disorders that arise as a result of defects within glycosylation synthetic pathways. CDGs are caused by pathogenic variants in many different genes in the glycosylation network.
Tara Weixel, Lynne Wolfe, Ellen F. Macnamara   +2 more
wiley   +1 more source

Dysregulated proteome and N‐glycoproteome in ALG1‐deficient fibroblasts

PROTEOMICS, Volume 24, Issue 15, August 2024.
Abstract Asparagine‐linked glycosylation 1 protein is a β‐1,4‐mannosyltransferase, is encoded by the ALG1 gene, which catalyzes the first step of mannosylation in N‐glycosylation. Pathogenic variants in ALG1 cause a rare autosomal recessive disorder termed as ALG1‐CDG.
Rohit Budhraja, Neha Joshi, Silvia Radenkovic, Tamas Kozicz, Eva Morava, Akhilesh Pandey   +5 more
wiley   +1 more source

Defects in the neuroendocrine axis cause global development delay in aDrosophilamodel of NGLY1 Deficiency

, 2018
N-glycanase 1 (NGLY1) Deficiency is a rare monogenic multi-system disorder first described in 2014. NGLY1 is evolutionarily conserved in model organisms, including theDrosophila melanogasterNGLY1 homolog,Pngl.
Joshua D. Mast, Ethan O. Perlstein, Tamy Portillo Rodriguez, Tom Hartl   +3 more
core   +1 more source