Results 91 to 100 of about 1,366 (180)

Insight into the mechanism of CD34+ cell mobilisation impairment in multiple myeloma patients treated with anti‐CD38 therapy

British Journal of Haematology, Volume 204, Issue 4, Page 1439-1449, April 2024.
Modern anti‐CD38 monoclonal antibodies daratumumab and isatuximab have been associated with impairment of CD34+ cell mobilisation but the mechanism was not elucidated so far. In this study, we investigated the effect of three different regimens (dara‐VCd, isa‐KRd and VTd) on CD34+ cells and the findings suggest that upregulated adhesion‐related ...
Ondrej Venglar, Veronika Kapustova, Anjana Anilkumar Sithara, David Zihala, Ludmila Muronova, Tereza Sevcikova, Jan Vrana, Alexander Vdovin, Jakub Radocha, Petra Krhovska, Matous Hrdinka, Michal Turjap, Tereza Popkova, Zuzana Chyra, Lucie Broskevicova, Michal Simicek, Zdenek Koristek, Roman Hajek, Tomas Jelinek   +18 more
wiley   +1 more source

An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene

Stem Cell Research, 2019
NGLY1 deficiency is a rare inherited disorder caused by mutations in the NGLY1 gene encoding N-glycanase 1 that is a hydrolase for N-linked glycosylated proteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a
Shu Yang, Yu-Shan Cheng, Rong Li, Manisha Pradhan, Junjie Hong, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matt Might, Steven Rodems, Wei Zheng   +10 more
doaj   +1 more source

Basal autophagy is involved in the degradation of the ERAD component EDEM1 [PDF]

, 2018
.: Little is known about the fate of machinery proteins of the protein quality control and endoplasmic reticulum(ER)-associated degradation (ERAD).
Gaplovska-Kysela, K., Guhl, B., Le Fourn, V., Roth, J., Santimaria, R., Zuber, C.   +5 more
core  

Exome-wide association study of pancreatic cancer risk [PDF]

, 2018
We conducted a case-control exome-wide association study to discover germline variants in coding regions that affect risk for pancreatic cancer, combining data from 5 studies. We analyzed exome and genome sequencing data from 437 patients with pancreatic
Biankin, Andrew, Borgida, Ayelet, Cleary, Sean, Connor, Ashton A., Cook, Natalie, Denroche, Robert E., Gallinger, Steven, Grant, Robert C., Grimmond, Sean M., Klein, Alison P., Lemire, Mathieu, Moore, Malcolm, Peterson, Gloria, Roberts, Nicholas J., Smith, Alyssa L., Stein, Lincoln, Virtanen, Carl, Wilson, Julie M., Zogopolous, George   +18 more
core   +1 more source

Audiologic follow up results of child with NGLY1 deficiency

Annals of Medical Research, 2023
NGLY1 deficiency is a rare in which affected individuals show developmental delay/intellectual disability in the mild to profound range, epilepsy, auditory neuropathy, abnormal liver function, complex hyperkinetic movement disorder and poor growth. Here, we present the follow-up results of hearing status in a patient with NGLY1 deficiency.
Yeral, Cem, Yilmaz, Oğuz, Bayazıt, Yıldırım, Gundogdu, Ogulcan   +3 more
openaire   +2 more sources

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.
Bainbridge, M, Bast, T, Bernstein, JA, Bibb, A, Boyle, S, Butte, AJ, Chen, R, Chen, R, Clark, MJ, Cowan, TM, Cox, R, Crimian, R, Enns, GM, FORGE Canada Consortium, Freeze, HH, Gambello, MJ, Gibbs, RA, Goldstein, DB, Graham, BH, Haraksingh, R, He, P, Hegde, M, Jones, M, Langlois, S, Need, AC, Oviedo, A, Platt, J, Scavina, M, Schaaf, CP, Schoch, K, Shashi, V, Snyder, M, Walter, RS, Zahir, FR, Zoghbi, HY   +34 more
core   +2 more sources

Congenital alacrima in a 17-month-old boy: a case report [PDF]

, 2020
Alakrima je rijedak poremećaj koji označava smanjenu ili odsutnu proizvodnju suza i to se većinom očituje od rođenja. Može se javiti izolirano zbog urođene aplazije/hipoplazije ili poremećaja inervacije suzne žlijezde i pridruženih struktura, ali može ...
Adriana Bobinec, Freja Bagatin, Maja Malenica Ravlić, Renata Iveković, Zoran Vatavuk   +4 more
core   +2 more sources

Discovering the Hidden Power of NGLY1: Orchestrating Immune Cell Functions and Autoimmune Diseases

Frontiers in Bioscience-Landmark
The enzyme N-glycanase 1 (NGLY1) regulates autophagic processes and endoplasmic reticulum (ER)-associated proteasomal degradation by de-N-glycosylation of misfolded glycoproteins.
Christina B. Brunner, Melissa C. Schubbert, Maximilian M. Siewert, Michèle Ohnemüller, Frederic Kuwert, Ulla I. M. Gerling-Driessen, Katharina Pracht   +6 more
doaj   +1 more source

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

Activating the NFE2L1-ubiquitin-proteasome system by DDI2 protects from ferroptosis [PDF]

Ferroptosis is an iron-dependent, non-apoptotic form of cell death initiated by oxidative stress and lipid peroxidation. Recent evidence has linked ferroptosis to the action of the transcription factor Nuclear factor erythroid-2 derived,-like-1 (NFE2L1).
Bartelt, Alexander, Bayer, Batoul, Haas, Daniel T., Haberecht-Müller, Stefanie, Jung, Anna S., Kotschi, Stefan, Krahmer, Natalie, Krüger, Elke, Lemmer, Imke L., Möller, Sophie, Ofoghi, Anahita, Willemsen, Nienke   +11 more
core   +1 more source