Results 101 to 110 of about 1,366 (180)

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

Functional Genomics of the Angiotensin II Type 2 Receptor in the Developing Brain [PDF]

, 2007
The mammalian brain expresses two angiotensin II specific receptors, the angiotensin II type 1 (AGTR1) and type 2 (AGTR2). Studies in humans and mice indicate a possible role for AGTR2 in learning, memory and behavior.
Pawlowski, Traci
core   +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

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

Insight into the degradation pathway of proteins produced by ribosomes stalled at the termination codon [PDF]

, 2018
Protein translation is an essential cellular process that must be efficient, accurate and appropriately regulated to guarantee the correct homeostasis and cell survival.
Cesaratto, Francesca
core  

ePoster

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

The case for open science: rare diseases. [PDF]

, 2020
The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community.
Avillach, Paul, Baynam, Gareth, Cederroth, Helene, Gahl, William A, Goodwin, Rebecca M, Groft, Stephen C, Haendel, Melissa A, Hansson, Mats G, Harris, Nomi L, Huser, Vojtech, Mascalzoni, Deborah, McMurry, Julie A, Might, Matthew, Mons, Barend, Nellaker, Christoffer, Paltoo, Dina N, Pevsner, Jonathan, Posada, Manuel, Robinson, Peter N, Rockett-Frase, Alison P, Roos, Marco, Rubinstein, Tamar B, Rubinstein, Yaffa R, Taruscio, Domenica, van Enckevort, Esther   +24 more
core   +1 more source

A Rare Case: NGLY1 Deficiency and Diaphragmatic Eventration

Turkish Archives of Pediatrics
Cite this article as: Pekal AB, Şevik R, Yüzbaşı BK, Güngör O, Karaer K. A rare case: NGLY1 deficiency and diaphragmatic eventration. Turk Arch Pediatr.Published online November 26, 2025.
Ayşe Büşra Pekal, Rümeysa Şevik, Beste Kipçak Yüzbaşı, Olcay Güngör, Kadri Karaer   +4 more
openaire   +1 more source