Results 61 to 70 of about 1,366 (180)

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios [PDF]

, 2014
Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are based on known or presumed pathogenic variants in genes already associated with a similar phenotype.
Anikster, Y, Ben-Zeev, B, Dhindsa, RS, Goldstein, DB, Goldstein, J, Han, Y, Heimer, G, Hitomi, Y, Jiang, Y-H, Lancet, D, Lu, Y-F, Marek-Yagel, D, McHale, D, McSweeney, KM, Need, AC, Nissenkorn, A, Oz-Levi, D, Petrovski, S, Pras, E, Ruzzo, EK, Schoch, K, Shashi, V, Spillmann, RC, Tzadok, M, Worley, G, Xie, P, Zhu, X   +26 more
core   +1 more source

Studies on non-conventional degradation pathway for N-glycoproteins in mammalian cells [PDF]

, 2015
学位記号番号 : 博理工甲第970号博士の専攻分野の名称 : 博士(学術) 学位授与年月日 : 平成27年3月24日textapplication ...
17293, ファン, チェンチェン, 黄, 澄澄   +2 more
core   +4 more sources

Gene Essentiality Profiling Reveals Gene Networks and Synthetic Lethal Interactions with Oncogenic Ras [PDF]

, 2018
The genetic dependencies of human cancers widely vary. Here, we catalog this heterogeneity and use it to identify functional gene interactions and genotype-dependent liabilities in cancer.
Chen, Walter W., Hughes, Nicholas W., Kendirli, Arek, Klein, Klara, Lander, Eric S., Liu, Bingxu, Sabatini, David, Wang, Tim, Yu, Haiyan   +8 more
core   +1 more source

The cytoplasmic peptide:N-glycanase (NGLY1) — Structure, expression and cellular functions [PDF]

Gene, 2016
NGLY1/Ngly1 is a cytosolic peptide:N-glycanase, i.e. de-N-glycosylating enzyme acting on N-glycoproteins in mammals, generating free, unconjugated N-glycans and deglycosylated peptides in which the N-glycosylated asparagine residues are converted to aspartates.
Suzuki, Tadashi, Huang, Chengcheng, Fujihira, Haruhiko   +2 more
openaire   +2 more sources

ADrosophilanatural variation screen identifies NKCC1 as a substrate of NGLY1 deglycosylation and a modifier of NGLY1 deficiency [PDF]

, 2020
AbstractN-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in theNGLY1gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears. To model the phenotypic variability observed among patients, we crossed aDrosophilamodel of NGLY1 deficiency onto a panel of ...
Talsness, Dana M., Owings, Katie G., Coelho, Emily, Mercenne, Gaelle, Pleinis, John M., Zuberi, Aamir R., Partha, Raghavendran, Clark, Nathan L., Lutz, Cathleen M., Rodan, Aylin R., Chow, Clement Y.   +10 more
openaire   +1 more source

The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency. [PDF]

J Exp Med
The STING pathway is increasingly recognized as a key regulator of neuroinflammation in neurodegenerative disease, but its role in noninflammatory conditions remains unclear. We generated a postnatal inducible whole-body Ngly1 knockout mouse (iNgly1−/−) to model NGLY1 deficiency, an early-onset neurodegenerative disorder.
Yang K, Torres-Ramirez G, Dobbs N, Han J, Asahina M, Fujinawa R, Song K, Liu Y, Lin W, Oviedo A, Chen C, Zhu L, Mueller WF, Lee K, Suzuki T, Yan N.   +15 more
europepmc   +2 more sources

Knowledge-based approaches to drug discovery for rare diseases [PDF]

, 2021
The conventional drug discovery pipeline has proven to be unsustainable for rare diseases. Herein, we discuss recent advances in biomedical knowledge mining applied to discovering therapeutics for rare diseases. We summarize current chemogenomics data of
Alves, Vinicius M, Baker, Nancy, Capuzzi, Stephen J, Chirkova, Rada, Ekins, Sean, Hickey, Anthony, Korn, Daniel, Muratov, Eugene N, Pervitsky, Vera, Thieme, Andrew, Tropsha, Alexander   +10 more
core   +2 more sources

NGLY1 Deficiency Affects Glycosaminoglycan Biosynthesis and Wnt Signaling Pathway in Mice [PDF]

, 2022
Individuals affected by NGLY1 Deficiency cannot properly deglycosylate and recycle certain proteins. Even though less than 100 people worldwide have been diagnosed with this rare autosomal recessive condition, thousands are affected by similar ...
Batten, Amy
core   +1 more source

Novel Combination of Sorafenib and Celecoxib Provides Synergistic Anti-Proliferative and Pro-Apoptotic Effects in Human Liver Cancer Cells [PDF]

, 2013
Molecular targeted therapy has shown promise as a treatment for advanced hepatocellular carcinoma (HCC). Sorafenib, a multikinase inhibitor, recently received FDA approval for the treatment of advanced HCC.
A Cusimano, A Cusimano, A Cusimano, Antonella Cusimano, Antonina Azzolina, B Pyrzynska, B Yu, B Zhao, BC Lin, C Cai, CA Hall, CM Schmidt, D Bachvarov, D Foderà, D Levy, Dimcho Bachvarov, DM French, E Bertini, E Lapi, EN Gurzov, ET Sawey, G Montalto, Giuseppe Montalto, H Hao, H Koga, H Nakabayashi, HB El-Serag, HK Ho, James A. McCubrey, KS Yee, L Giannitrapani, M Cervello, M Cervello, M Cervello, M Cervello, M Cervello, M Cervello, M Cervello, M Nakamura, MA Kern, Manlio Vinciguerra, Melchiorre Cervello, MU Latasa, MZ Xu, N Inohara, N Lampiasi, N Lampiasi, N Ohoka, Nadia Lampiasi, PL Mercier, S Basu, S Miura, SS Cao, T Muramatsu, W Poh, X Zhang, Y Wang   +56 more
core   +3 more sources

NGLY1 knockdown or pharmacological inhibition induces cellular autophagy [PDF]

, 2020
SummaryPan-caspase inhibitor Z-VAD-fmk acts as an inhibitor of peptide:N-glycanase (NGLY1); an endoglycosidase which cleavesN-linked glycans from glycoproteins exported from the endoplasmic reticulum during ER-associated degradation (ERAD). PharmacologicalN-glycanase inhibition by Z-VAD-fmk or siRNA knockdown (KD) induces GFP-LC3 positive puncta in HEK
Sarah H Needs, Martin D Bootman, Jeff E Grotzke, Holger B Kramer, Sarah A Allman   +4 more
openaire   +1 more source