Results 91 to 100 of about 954 (147)

Enzymatic insights into an inherited genetic disorder

eLife, 2017
Mutations in an enzyme involved in protein degradation affect a signaling pathway that stimulates the development of the digestive tract.
Liping Zhang, Kelly G Ten Hagen
doaj   +1 more source

HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis

Acta Neuropathologica Communications, 2019
Human homologue of yeast UV excision repair protein Rad23b (HR23B) inclusions are found in a number of neurodegenerative diseases, including frontotemporal dementia (FTD), Huntington’s disease (HD), spinocerebellar ataxia type 3 and 7 (SCA3/7), fragile X
Frederike W. Riemslagh, Hannes Lans, Harro Seelaar, Lies-Anne W. F. M. Severijnen, Shamiram Melhem, Wim Vermeulen, Eleonora Aronica, R. Jeroen Pasterkamp, John C. van Swieten, Rob Willemsen   +9 more
doaj   +1 more source

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Additional file 1 of NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

Additional file 1. Supplementary Tables 1–3 and Supplementary Figures 1–3.
Stanclift, Caroline R., Dwight, Selina S., Lee, Kevin, Eijkenboom, Quirine L., Wilsey, Matt, Wilsey, Kristen, Kobayashi, Erica Sanford, Tong, Sandra, Bainbridge, Matthew N.   +8 more
openaire   +1 more source

A commentary on "Patient-derived gene and protein expression signatures of NGLY1 deficiency".

Journal of Biochemistry (Tokyo), 2023
Tadashi Suzuki
semanticscholar   +1 more source

Taking the STING out of neurodegenerative disease. [PDF]

J Exp Med
Mangalmurti A, Lukens JR.
europepmc   +1 more source

Structural characterization of zebrafish Ngly2, an ovary-enriched acid PNGase required for egg-free glycan production. [PDF]

J Biol Chem
Honda A, Kamada K, Seino J, Hirayama H, Fujihira H, Ueki M, Shiraki T, Burton-Smith RN, Murata K, Ishii N, Matsuo I, Suzuki T.   +11 more
europepmc   +1 more source

Correction to: Reversibility of motor dysfunction in the rat model of NGLY1 deficiency

Molecular Brain, 2021
Makoto Asahina, Reiko Fujinawa, Hiroto Hirayama, Ryuichi Tozawa, Yasushi Kajii, Tadashi Suzuki   +5 more
doaj   +1 more source

Anything you can do, glycans do better: deglycosylation and noncanonical ubiquitination vie to rule the proteasome. [PDF]

Trends Biochem Sci
Lehrbach N.
europepmc   +1 more source

NFE2L1 as a central regulator of proteostasis in neurodegenerative diseases: interplay with autophagy, ferroptosis, and the proteasome. [PDF]

Front Mol Neurosci
Khodadadi H, Łuczyńska K, Winiarczyk D, Leszczyński P, Taniguchi H.   +4 more
europepmc   +1 more source