Results 41 to 50 of about 792 (148)
Cell Death and Disease, 2022 Mutations in N-glycanase 1 (NGLY1), which deglycosylates misfolded glycoproteins for degradation, can cause NGLY1 deficiency in patients and their abnormal fetal development in multiple organs, including microcephaly and other neurological disorders ...
Victor J. T. Lin +9 more
doaj +1 more source
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan. [PDF]
JIMD RepABSTRACT 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 ...
Okamoto N, Kadoya M, Wada Y.
europepmc +2 more sources
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios [PDF]
, 2014 Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are based on known or presumed pathogenic variants in genes already associated with a similar phenotype.
Anikster, Y +26 more
core +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
NGLY1 Deficiency Affects Glycosaminoglycan Biosynthesis and Wnt Signaling Pathway in Mice [PDF]
, 2022 Individuals affected by NGLY1 Deficiency cannot properly deglycosylate and recycle certain proteins. Even though less than 100 people worldwide have been diagnosed with this rare autosomal recessive condition, thousands are affected by similar ...
Batten, Amy
core +1 more source
Loss of N-Glycanase 1 Alters Transcriptional and Translational Regulation in K562 Cell Lines
G3: Genes, Genomes, Genetics, 2020 N-Glycanase 1 (NGLY1) deficiency is an ultra-rare, complex and devastating neuromuscular disease. Patients display multi-organ symptoms including developmental delays, movement disorders, seizures, constipation and lack of tear production.
William F. Mueller +15 more
doaj +1 more source
Sugar coating autophagy: exploring the links between the inhibition of NGLY1 (N-glycanase 1) and autophagy induction [PDF]
, 2023 The cytosolic enzyme NGLY1 (N-glycanase 1) is a central mediator of glycoprotein catabolism. The enzyme acts to cleave N-linked glycans from modified substrate asparagine residues prior to degradation of misfolded proteins by the proteasome, playing a ...
Allman, Sarah Ann, Kramer, H.B.R.
core +2 more sources
Stem Cell Research, 2019 NGLY1 deficiency is a rare genetic disease caused by mutations in the NGLY1 gene that encodes N-glycanase 1. The disease phenotype in patient cells is unclear.
Rong Li +11 more
doaj +1 more source
The Biochemical Basis of Congenital Disorders of Glycosylation [PDF]
, 2018 The enzyme peptide: N-glycanase (EC 3.5.1.52) is an endoglycosidase which cleaves N-linked glycans from incorrectly folded glycoproteins exported from the endoplasmic reticulum during ER-associated degradation (ERAD).
Needs, Sarah
core +1 more source
Audiologic follow up results of child with NGLY1 deficiency
Annals of Medical Research, 2023 NGLY1 deficiency is a rare in which affected individuals show developmental delay/intellectual disability in the mild to profound range, epilepsy, auditory neuropathy, abnormal liver function, complex hyperkinetic movement disorder and poor growth. Here, we present the follow-up results of hearing status in a patient with NGLY1 deficiency.
Yeral, Cem +3 more
openaire +2 more sources