Results 41 to 50 of about 1,211 (133)

KLB , encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism [PDF]

, 2017
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic form of isolated gonadotropin‐releasing hormone (GnRH) deficiency caused by mutations in > 30 genes.
Andrea Messina, Andrew A Dwyer, Andrew A Toogood, Bayram F, Cheng Xu, Christian De Geyter, Daniele Cassatella, Emmanuel Somm, Gerasimos P Sykiotis, Hichem Miraoui, James Acierno, Jeremy MW Kirk, Justine Bouilly, Lacey Plummer, Manuel Tena‐Sempere, Mirjam Dirlewanger, Moosa Mohammadi, Nelly Pitteloud, Nicolas J Niederländer, Richard Quinton, Tarja Kinnunen, Trevor R Cole, Urs Albrecht, Valérie Schwitzgebel, Vincent Prevot, William F Crowley, Yisrael Sidis   +26 more
core   +4 more sources

The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients [PDF]

, 2021
  Objective Whole exome sequencing (WES) is a new molecular diagnostic test, used in pediatric medicine, especially pediatric neurology. The diagnostic yield of WES is higher than conventional methods.
Ahmadnia, Negin, Ashrafzadeh, Farah, Beiraghitoosi, Mehran, Faraji rad, Mohammad, Ghayour karimiani , Ehsan   +4 more
core   +2 more sources

The functional O-mannose glycan on adystroglycan contains a phospho-ribitol primed for matriglycan addition [PDF]

, 2016
This work was supported in part by grants from NIGMS/NIH (R01GM111939 to LW, P01GM107012, KWM and LW co-PIs), technology resource grants from NIGMS/NIH (P41GM103490, LW and KWM co-PIs and P41GM103390, KWM, PI), a Paul D.
Adzhubei, Baddiley, Barb, Barresi, Baur, Beckett, Beltrán-Valero de Bernabé, Carmignac, Chiba, Cirak, Collins, Damerell, Dobson, Dong, Duclos, Endo, Endo, Ervasti, Ervasti, Fakhouri, Geis, Hara, Hara, Holt, Jae, Kanagawa, Kumagai, Lee, Lee, Lee, Lefeber, Link, Manzini, Meng, Michele, Muntoni, Parsons, Perl, Praissman, Praissman, Pédelacq, Richard, Riemersma, Riemersma, Robu, Roscioli, Sim, Stalnaker, Stalnaker, Tözsér, Vester-Christensen, Vuillaumier-Barrot, Wells, Willer, Willer, Yoshida, Yoshida, Yoshida-Moriguchi, Yoshida-Moriguchi, Yoshida-Moriguchi   +59 more
core   +2 more sources

Post-translational modifications of voltage-gated sodium channels in chronic pain syndromes. [PDF]

, 2015
In the peripheral sensory nervous system the neuronal expression of voltage-gated sodium channels (Navs) is very important for the transmission of nociceptive information since they give rise to the upstroke of the action potential (AP).
Abdulla, Abrahamsen, Abriel, Abriel, Abriel, Abriel, Akopian, Akopian, Akopian, Aley, Aley, Amaya, Arévalo, Bair, Basbaum, Battaini, Ben-Johny, Bendahhou, Beneski, Bennett, Bennett, Berta, Bierhaus, Bierhaus, Bird, Bird, Biswas, Black, Black, Black, Bongiorno, Bouhassira, Bretin, Brouwer, Brower, Brüggemann, Cachemaille, Campbell, Cang, Cantrell, Cantrell, Casals-Diaz, Catterall, Catterall, Cesare, Cesare, Chahine, Chatelier, Chattopadhyay, Chen, Chen, Cheng, Chi, Ciechanover, Coggeshall, Cohen, Costa, Costa, Coward, Coward, Cox, Cronin, Cummins, Cummins, Cummins, Cusdin, Daemen, Dascal, Decosterd, Deribe, Deschênes, Deval, Dib-Hajj, Dib-Hajj, Dib-Hajj, Dib-Hajj, Dib-Hajj, Dietrich, Dina, Dina, Djouhri, Dogrul, Dong, Duan, Dubin, Dustrude, Edinger, Ednie, England, Errington, Errington, Faber, Faber, Fahmi, Ferrari, Ferreira, Ferreira, Fertleman, Firsov, Fitzgerald, Fjell, Fotia, Fotia, Fukuoka, Fukuoka, Galan, Gasser, Gaudet, Gee, Gershon, Gold, Gold, Gold, Goldin, Gould, Gudes, Han, Heikamp, Henry, Herzog, Herzog, Hirade, Hiruma, Ho, Hockley, Hoeijmakers, Hoeijmakers, Huang, Hucho, Hudmon, Hunter, Ikeda, Inagaki, Isom, Isom, Isom, James, Jarecki, Jarvis, Ji, Ji, Jin, Joazeiro, Johnson, Johnson, Joshi, Julius, Kazarinova-Noyes, Kazen-Gillespie, Kerr, Khasar, Khasar, Khasar, Kim, Kispersky, Klugbauer, Kreegipuu, Kresge, Kress, Kretschmer, Kruger, Laedermann, Laedermann, Laedermann, Laedermann, Lai, Latremoliere, Leipold, Leo, Leung, Li, Liang, Liu, Liu, Liu, Liu, Liu, Lolignier, Lopez-Santiago, Lopez-Santiago, Lou, Luo, Luo, Maingret, Malhotra, Malhotra, Maltsev, Mann, Mao, Matzner, Matzner, Messner, Metzger, Millan, Minett, Mittmann, Moon, Moremen, Morgan, Mori, Murphy, Murray, Nagasako, Narayanan, Nassar, Nelson, Noda, Novella, Numann, Nuss, Obata, Olsson, Payandeh, Perry, Persson, Pertin, Petho, Pickart, Pierre, Pitchford, Plummer, Priest, Qu, Rang, Ranscht, Raymond, Recio-Pinto, Ren, Renganathan, Renganathan, Ritchie, Rossie, Rossier, Rush, Rush, Rush, Sadamasu, Sangameswaran, Sanna, Schaller, Schepelmann, Schild, Schirmeyer, Schmidt, Schmidt, Scholz, Shah, Shao, Shi, Shih, Smith, Smith, Snyder, Snyder, Solà, Souza, Stamboulian, Staub, Strickland, Stucky, Sun, Suter, Taiwo, Tan, Thakor, Theriault, Thornalley, Toledo-Aral, Toledo-Aral, Tong, Toth, Turk, Tyrrell, van Bemmelen, Vanoye, Vijayaragavan, Vijayaragavan, Vijayaragavan, von Hehn, Wada, Wada, Waechter, Wang, Waxman, Waxman, Waxman, Waxman, Way, Wells, Widmann, Woolf, Woolf, Woolf, Woolf, Woolf, Wu, Xu, Xu, Xu, Xu, Yan, Yanagita, Yanagita, Yang, Yeomans, Yin, Young, Yu, Yu, Yuhi, Zhang, Zhang, Zhang, Zhang, Zhou, Zhou, Zhuang, Zimmer, Zochodne   +318 more
core   +2 more sources

Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches

Disease Models & Mechanisms, 2019
N-glycanase 1 (NGLY1) deficiency is an ultra-rare and complex monogenic glycosylation disorder that affects fewer than 40 patients globally. NGLY1 deficiency has been studied in model organisms such as yeast, worms, flies and mice.
Sangeetha Iyer, Joshua D. Mast, Hillary Tsang, Tamy P. Rodriguez, Nina DiPrimio, Madeleine Prangley, Feba S. Sam, Zachary Parton, Ethan O. Perlstein   +8 more
doaj   +1 more source

A congenital disorder of deglycosylation: biochemical characterization of N‐glycanase 1 deficiency in patient fibroblasts (607.3)

The FASEB Journal, 2014
N‐glycanase 1, encoded by NGLY1, catalyzes the deglycosylation of misfolded N‐linked glycoproteins. Using whole‐genome and ‐exome sequencing, we identified 6 cases with mutations in NGLY1. The patients show developmental delay, seizures, peripheral neuropathy, abnormal liver function, and absent tears.
Ping He, Bobby Ng, Peter Cresswell, Jeff Grotzke, Murat Gunel, Hamed Jafar‐Nejad, Vamsi Kodali, Randal Kaufman, Hudson Freeze   +8 more
openaire   +1 more source

The Biochemical Basis of Congenital Disorders of Glycosylation [PDF]

, 2018
The enzyme peptide: N-glycanase (EC 3.5.1.52) is an endoglycosidase which cleaves N-linked glycans from incorrectly folded glycoproteins exported from the endoplasmic reticulum during ER-associated degradation (ERAD).
Needs, Sarah
core   +1 more source

N-Glycosylation Regulates the Trafficking and Surface Mobility of GluN3A-Containing NMDA Receptors

Frontiers in Molecular Neuroscience, 2018
N-methyl-D-aspartate receptors (NMDARs) play critical roles in both excitatory neurotransmission and synaptic plasticity. NMDARs containing the nonconventional GluN3A subunit have different functional properties compared to receptors comprised of GluN1 ...
Kristyna Skrenkova, Kristyna Skrenkova, Kristyna Skrenkova, Sanghyeon Lee, Katarina Lichnerova, Katarina Lichnerova, Martina Kaniakova, Hana Hansikova, Martin Zapotocky, Young Ho Suh, Martin Horak, Martin Horak   +11 more
doaj   +1 more source

Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation. [PDF]

, 2020
During endoplasmic reticulum-associated degradation (ERAD), the cytoplasmic enzyme N-glycanase 1 (NGLY1) is proposed to remove N-glycans from misfolded N-glycoproteins after their retrotranslocation from the ER to the cytosol. We previously reported that
Adams, Joshua M, Affolter, Markus, Galeone, Antonio, Han, Seung Yeop, Hirayama, Hiroto, Jafar-Nejad, Hamed, Lutz, Cathleen M, Matsuda, Shinya, Pandey, Ashutosh, Presa, Maximiliano F, Suzuki, Tadashi, Tachida, Yuriko, Vaccari, Thomas, Zuberi, Aamir   +13 more
core   +2 more sources

Management and Modification of Flavonoids Against Nonalcoholic Fatty Liver Disease

Food Bioengineering, Volume 4, Issue 3, Page 262-278, September 2025.
Flavonoids protect against NAFLD by enhancing mitochondrial function, reducing ER stress, and modulating gut microbiota. Structural modifications improve flavonoid efficacy, offering a promising dietary strategy for NAFLD management. ABSTRACT Flavonoids are small bioactive molecules commonly found in plant‐derived foods, exhibiting antioxidant, anti ...
Weidong Bai, Bingqi Huang, Wenhong Zhao, Gongliang Liu, Limei Yu, Zhi Lu, Hong Wang   +6 more
wiley   +1 more source