Results 61 to 70 of about 811 (146)
N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity
Cell Reports, 2019 Summary: Patients with pathogenic mutations in NGLY1 cannot make tears and have global developmental delay and liver dysfunction. Traditionally, NGLY1 cleaves intact N-glycans from misfolded, retrotranslocated glycoproteins before proteasomal degradation.
Mitali A. Tambe +2 more
doaj +1 more source
Clinical Genetics, Volume 97, Issue 4, Page 556-566, April 2020., 2020 Abstract NGLY1 encodes the enzyme N‐glycanase that is involved in the degradation of glycoproteins as part of the endoplasmatic reticulum‐associated degradation pathway. Variants in this gene have been described to cause a multisystem disease characterized by neuromotor impairment, neuropathy, intellectual disability, and dysmorphic features.
Daan M. Panneman +15 more
wiley +1 more source
Effect of NFE2L1 Overexpression and Knock Down on the Response of XBP1 Splice Variants to Endoplasmic Reticulum Stress [PDF]
, 2021 The unfolded protein response (UPR) is responsible for the degradation and refolding of misfolded proteins. Nuclear factor erythroid-2 like-1 (NFE2L1) basic leucine zipper (bZIP) transcription factor which respond primarily to oxidative stress and ...
Billingsley, Jacob Lecompte
core +2 more sources
American Journal of Medical Genetics Part A, Volume 182, Issue 3, Page 570-575, March 2020., 2020 Abstract Cohen syndrome (CS) is a rare autosomal recessive disorder associated with mutations in the vacuolar protein sorting 13 homolog B (VPS13B; formerly COH1) gene. The core clinical phenotype comprises a characteristic facial gestalt, marked developmental delay, and myopia.
Katrin Koehler +5 more
wiley +1 more source
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease. [PDF]
Bioorg Med Chem Lett, 2017 Bi Y +3 more
europepmc +2 more sources
, 2022 Full Fall 2022 issue of the Pandion Journal, volume 3, issue ...
Research, Office of Undergraduate
core +1 more source
Congenital alacrima in a 17-month-old boy: a case report [PDF]
, 2020 Alakrima je rijedak poremećaj koji označava smanjenu ili odsutnu proizvodnju suza i to se većinom očituje od rođenja. Može se javiti izolirano zbog urođene aplazije/hipoplazije ili poremećaja inervacije suzne žlijezde i pridruženih struktura, ali može ...
Adriana Bobinec +4 more
core +2 more sources
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. [PDF]
, 2014 PURPOSE: The endoplasmic reticulum-associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum membrane into the cytosol for subsequent degradation by the proteasome.
Bainbridge, M +34 more
core +2 more sources
Shedding light on NGLY1 deficiency: a call for awareness and support
Journal of Rare Diseases, 2023 AbstractNGLY1 deficiency is an ultra-rare autosomal recessive disorder caused by loss of function variants in the NGLY1 gene, representing the first known congenital disorder of deglycosylation. The disorder is characterized by a range of core features, including global developmental delay and/or intellectual disability, hyperkinetic movement disorder,
Zainab Hasan +1 more
openaire +1 more source