Results 91 to 100 of about 933 (165)

Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1

eLife, 2017
Mutations in the human N-glycanase 1 (NGLY1) cause a rare, multisystem congenital disorder with global developmental delay. However, the mechanisms by which NGLY1 and its homologs regulate embryonic development are not known. Here we show that Drosophila
Antonio Galeone, Seung Yeop Han, Chengcheng Huang, Akira Hosomi, Tadashi Suzuki, Hamed Jafar-Nejad   +5 more
doaj   +1 more source

Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation

JIMD Reports, 2019
We report on a 5‐year‐old female born to consanguineous parents, ascertained at the age of 23 months for an elevated plasma methionine level, a mildly abnormal total plasma homocysteine (tHcy), and elevated aminotransferases. She had global developmental
Caitlin A. Chang, Xing‐Chang Wei, Steven R. Martin, David S. Sinasac, Walla Al‐Hertani   +4 more
doaj   +1 more source

Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry

Orphanet Journal of Rare Diseases, 2019
Background NGLY1 deficiency is a rare autosomal recessive disorder caused by loss in enzymatic function of NGLY1, a peptide N-glycanase that has been shown to play a role in endoplasmic reticulum associated degradation (ERAD).
Eli M. Cahan, Steven L. Frick
doaj   +1 more source

Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders:Genetic and phenotypic expansion

, 2022
Neurodevelopmental disorders (NDDs) are heterogeneous genetic conditions of the central nervous system (CNS). Primary phenotypes of NDDs include epilepsy, loss of developmental skills, abnormal movements, muscle weakness, ocular anomalies, hearing ...
Hasan Aman, Lozano, Elionora Peña, Sulman Basit, Almatrafi, Ahmad M., Elionora Peña Lozano, Ullah, Asmat, Kun Xia, Aman, Hasan, Bilal Ali Anjam, Jai Krishin, Ullah Khan, Fati, Samad, Abdus, Majed Alluqmani, Alia M. Albalawi, Xia, Kun, Ahmad M. Almatrafi, Torben Hansen, Krishin, Jai, Shah, Abid Ali, Ahmad, Wasim, Fatima Alfadhli, Anjam, Bilal Ali, Alfadhli, Fatima, Fati Ullah Khan, Albalawi, Alia M., Abdullah, Alluqmani, Majed, Hansen, Torben, Basit, Sulman, Abid Ali Shah, Nighat Haider, Asmat Ullah, Abdus Samad, Wasim Ahmad, Haider, Nighat   +34 more
core   +1 more source

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.
Brett H. Graham, Hudson H. Freeze, Kelly Schoch, Oviedo, Angelica, Boyle, Sean, Christian P. Schaaf, Butte, Atul J, Zoghbi, Huda Y, Julia Platt, Jones, Melanie, Hegde, Madhuri, Tina M. Cowan, Rachel Cox, Mena Scavina, Rhonda S. Walter, Scavina, Mena, Gibbs, Richard A, Crimian, Rebecca, Michael J. Gambello, Richard A. Gibbs, Bibb, Audrey, Gregory M. Enns, Anna C. Need, Graham, Brett H, Cowan, Tina M, Snyder, Michael, Bast, Thomas, Chen, Rui, Jonathan A. Bernstein, Thomas Bast, Ping He, Need, Anna C, Freeze, Hudson H, Melanie Jones, Michael Snyder, Schaaf, Christian P, Vandana Shashi, Farah R. Zahir, Haraksingh, Rajini, He, Ping, Michael J. Clark, Goldstein, David B, Cox, Rachel, Zahir, Farah R, Matthew Bainbridge, Rong Chen, Rajini Haraksingh, Madhuri Hegde, Audrey Bibb, Sean Boyle, Enns, Gregory M, Bernstein, Jonathan A, Walter, Rhonda S, Shashi, Vandana, FORGE Canada Consortium, Chen, Rong, Atul J. Butte, Sylvie Langlois, Bainbridge, Matthew, Gambello, Michael J, Schoch, Kelly, Angelica Oviedo, Platt, Julia, Huda Y. Zoghbi, Clark, Michael J, Rebecca Crimian, Langlois, Sylvie, David B. Goldstein   +67 more
core   +1 more source

Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation

, 2022
The cytosolic PNGase (peptide:N-glycanase), also known as peptide-N4-(N-acetyl-β-glucosaminyl)-asparagine amidase, is a well-conserved deglycosylation enzyme (EC 3.5.1.52) which catalyzes the non-lysosomal hydrolysis of an N(4)-(acetyl-β-d-glucosaminyl ...
Lu, Guanting, Xiangguang Miao, Chen, Hongping, Miao, Xiangguang, Guanting Lu, Wu, Jin, Hongping Chen, Jin Wu   +7 more
core   +1 more source

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

Defects in the neuroendocrine axis cause global development delay in aDrosophilamodel of NGLY1 Deficiency

, 2018
N-glycanase 1 (NGLY1) Deficiency is a rare monogenic multi-system disorder first described in 2014. NGLY1 is evolutionarily conserved in model organisms, including theDrosophila melanogasterNGLY1 homolog,Pngl.
Joshua D. Mast, Ethan O. Perlstein, Tamy Portillo Rodriguez, Tom Hartl   +3 more
core   +1 more source

ePoster

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