Results 41 to 50 of about 811 (146)
Generation and characterization of NGLY1 patient-derived midbrain organoids
Frontiers in Cell and Developmental Biology, 2023 NGLY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan.
Joshua Abbott +12 more
doaj +1 more source
Traffic, Volume 24, Issue 8, Page 312-333, August 2023., 2023 Degradation of unassembled, misfolded, and other defective proteins is mediated by a major quality control mechanism, named the endoplasmic reticulum‐associated protein degradation (ERAD). Throughout this manuscript, we present the various genetically manipulated higher cellular and mammalian animal models that were depleted for specific ERAD ...
Sally Badawi +3 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 46, Issue 2, Page 206-219, March 2023., 2023 Abstract Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan‐side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. In metabolic laboratories, these disorders are commonly diagnosed by thin‐
Marne C. Hagemeijer +6 more
wiley +1 more source
Advanced Therapeutics, Volume 5, Issue 11, November 2022., 2022 NGLY1‐CDDG is a rare and recently identified congenital deglycosylation disorder that impairs motor function. Motoneurons (MNs) derived from NGLY1‐deficient patients are co‐cultured with skeletal muscle in a neuromuscular junction microphysiological system.
Trevor Sasserath +15 more
wiley +1 more source
Stem Cell Research, 2021 NGLY1 deficiency is a rare recessive genetic disease caused by mutations in the NGLY1 gene which codes for N-glycanase 1 (NGLY1). Here, we report the generation of two gene corrected iPSC lines using a patient-derived iPSC line (NCATS-CL6103) that ...
Ivan Pavlinov +11 more
doaj +1 more source
Knowledge-based approaches to drug discovery for rare diseases [PDF]
, 2021 The conventional drug discovery pipeline has proven to be unsustainable for rare diseases. Herein, we discuss recent advances in biomedical knowledge mining applied to discovering therapeutics for rare diseases. We summarize current chemogenomics data of
Alves, Vinicius M +10 more
core +2 more sources
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants
Molecular Genetics &Genomic Medicine, Volume 10, Issue 1, January 2022., 2022 We report the molecular and biochemical basis of an extended highly consanguineous family with five children presenting severe congenital hypotonia who underwent a ‘diagnostic odyssey.’ We have identified a novel nonsense variant in NGLY1 in two affected siblings, and compound heterozygosity for three novel RYR1 variants in two affected sisters from ...
Limor Kalfon +9 more
wiley +1 more source
Stem Cell Research, 2021 NGLY1 deficiency is a rare disorder caused by mutations in the NGLY1 gene which codes for the highly conserved N-glycanase1 (NGLY1). This enzyme functions in cytosolic deglycosylation of N- linked glycoproteins.
Manisha Pradhan +10 more
doaj +1 more source
Evidence-Based Complementary and Alternative Medicine, Volume 2022, Issue 1, 2022., 2022 Objectives. Yang and Yin are two main concepts responsible for harmonious balance reflecting health conditions based on Chinese medicine theory. Of note, deficiency of either Yang or Yin is associated with disease susceptibility. In this study, we aim to clarify the molecular feature of Yang and Yin deficiency by reanalyzing a transcriptomic data set ...
Cheng Zhang +6 more
wiley +1 more source
Identification of MYH6 as the potential gene for human ischaemic cardiomyopathy
Journal of Cellular and Molecular Medicine, Volume 25, Issue 22, Page 10736-10746, November 2021., 2021 Abstract The present study aimed to explore the potential hub genes and pathways of ischaemic cardiomyopathy (ICM) and to investigate the possible associated mechanisms. Two microarray data sets (GSE5406 and GSE57338) were downloaded from the Gene Expression Omnibus (GEO) database.
Jian‐Hong Chen +6 more
wiley +1 more source