Results 51 to 60 of about 792 (148)
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
Studies on non-conventional degradation pathway for N-glycoproteins in mammalian cells [PDF]
, 2015 埼玉大学博士(学術)86 p.In eukaryotes, a large portion of the secretory and membrane proteins that synthesized in the ER are modified with asparagine-linked glycans (N-glycans).
ファン, チェンチェン +1 more
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
, 2022 Full Fall 2022 issue of the Pandion Journal, volume 3, issue ...
Research, Office of Undergraduate
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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
Journal of Inherited Metabolic Disease, 2022 AbstractCongenital disorders of glycosylation are genetic disorders that occur due to defects in protein and lipid glycosylation pathways. A deficiency of N‐glycanase 1, encoded by the NGLY1 gene, results in a congenital disorder of deglycosylation.
Rohit Budhraja +8 more
openaire +2 more sources
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
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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
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NGLY1 Deficiency: A Rare Genetic Disorder Unlocks Therapeutic Potential for Common Diseases
Israel Journal of Chemistry, 2022 AbstractThe enzyme catalysing the removal of N‐linked glycans from misfolded glycoproteins in the cytosol is an evolutionary well‐conserved glycanase called Peptide:N‐glycanase (PNGase; NGLY1 in humans). NGLY1 hydrolyses the amide bond between an Asn and the proximal N‐acetylglucosamine (GlcNAc) of the attached N‐glycan, thereby converting that ...
Simon Walber +2 more
openaire +1 more source