Results 81 to 90 of about 933 (165)

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

Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

Molecular Genetics & Genomic Medicine, 2022
Background We aimed to determine the molecular and biochemical basis of an extended highly consanguineous family with multiple children presenting severe congenital hypotonia.
Limor Kalfon, Meirav Baydany, Nadra Samra, Nawaf Heno, Zvi Segal, Ayelet Eran, Alon Yulevich, Yakov Fellig, Hanna Mandel, Tzipora C. Falik‐Zaccai   +9 more
doaj   +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

Insight into the mechanism of CD34+ cell mobilisation impairment in multiple myeloma patients treated with anti‐CD38 therapy

British Journal of Haematology, Volume 204, Issue 4, Page 1439-1449, April 2024.
Modern anti‐CD38 monoclonal antibodies daratumumab and isatuximab have been associated with impairment of CD34+ cell mobilisation but the mechanism was not elucidated so far. In this study, we investigated the effect of three different regimens (dara‐VCd, isa‐KRd and VTd) on CD34+ cells and the findings suggest that upregulated adhesion‐related ...
Ondrej Venglar, Veronika Kapustova, Anjana Anilkumar Sithara, David Zihala, Ludmila Muronova, Tereza Sevcikova, Jan Vrana, Alexander Vdovin, Jakub Radocha, Petra Krhovska, Matous Hrdinka, Michal Turjap, Tereza Popkova, Zuzana Chyra, Lucie Broskevicova, Michal Simicek, Zdenek Koristek, Roman Hajek, Tomas Jelinek   +18 more
wiley   +1 more source

Suppression of glycosidase NGLY1 induces multifaceted anticancer responses.

, 2018
Purpose: NGLY1 is a pivotal enzyme that catalyzes the deglycosylation of denatured glycoproteins and facilitates proteasome-mediated protein degradation.
Lin, Victor, Parab, Abhishek, Hoffmann, Peter, Emmitte, Kyle, Ho, Yin, Zolekar, Ashwini, Wang, Yu-chieh, Mishra, Nigam, Hayatshahi, Hamed, Sampat, Rohit, Liu, Jin, Liao, Xiaoyan   +11 more
core  

Clone size, O-GlcNAc, and NGLY1 decreased in Png1 or OGT mutant midgut used MARCM clonal system.

, 2022
(A) In the midgut of FRT82, Png1ex18; FRT82B, and sxc7; FRT82B flies. (B) The number of clones per field in midguts from the indicated genotype. (C) The number of cells per clone in midguts from the indicated genotype.
Lara K. Abramowitz (1322955), Hyun-jin Na (12251413), John A. Hanover (669243)   +2 more
core   +1 more source

Discovering the Hidden Power of NGLY1: Orchestrating Immune Cell Functions and Autoimmune Diseases

Frontiers in Bioscience-Landmark
The enzyme N-glycanase 1 (NGLY1) regulates autophagic processes and endoplasmic reticulum (ER)-associated proteasomal degradation by de-N-glycosylation of misfolded glycoproteins.
Christina B. Brunner, Melissa C. Schubbert, Maximilian M. Siewert, Michèle Ohnemüller, Frederic Kuwert, Ulla I. M. Gerling-Driessen, Katharina Pracht   +6 more
doaj   +1 more source

Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches

Disease Models & Mechanisms, 2019
N-glycanase 1 (NGLY1) deficiency is an ultra-rare and complex monogenic glycosylation disorder that affects fewer than 40 patients globally. NGLY1 deficiency has been studied in model organisms such as yeast, worms, flies and mice.
Sangeetha Iyer, Joshua D. Mast, Hillary Tsang, Tamy P. Rodriguez, Nina DiPrimio, Madeleine Prangley, Feba S. Sam, Zachary Parton, Ethan O. Perlstein   +8 more
doaj   +1 more source

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
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