Results 71 to 80 of about 422,094 (137)

A Natural Compound Containing a Disaccharide Structure of Glucose and Rhamnose Identified as Potential N-Glycanase 1 (NGLY1) Inhibitors

, 2023
N-glycanase 1 (NGLY1) is an essential enzyme involved in the deglycosylation of misfolded glycoproteins through the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which could hydrolyze N-glycan from N-glycoprotein or N-glycopeptide in ...
Yuxin Zhang, Yanwen Chen, Shuying Yuan, Jingjing Gu, Shaoxing Zhang, Shaoxian Lv, Xinrong Lu, Guiqin Sun, Ruijie Liu, Yilin Ye, Yongliang Tong, Li Chen, Qiange Lin   +12 more
core   +1 more source

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

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction. [PDF]

, 2020
NGLY1 encodes the enzyme N-glycanase that is involved in the degradation of glycoproteins as part of the endoplasmatic reticulum-associated degradation pathway.
Brandt, F. van den, Hendriks, Yvonne, Smeitink, Jan A M, Hasselt, P.M. van, Emst-de Vries, S.E. van, Lefeber, Dirk J, Wortmann, Saskia B, de Vries, Maaike, Lefeber, Dirk J., Rodenburg, R.J., Küsters, B., de Vries, M., Rodenburg, Richard J, Wolf, N.I., van Emst-de Vries, Sjenet, Westerlo, E.M.A. van de, Vries, M.C. de, Koopman, Werner J.H., Panneman, Daan M, van Hasselt, Peter M., Wortmann, Saskia B., van den Brandt, F., van den Brandt, Frans, Smeitink, J.A.M., Rodenburg, R.J.T., Panneman, Daan M., Wortmann, S.B., Lefeber, D.J., Panneman, D.M., Wintjes, L., Haaxma, C.A., van de Westerlo, E., van Hasselt, P.M., Wintjes, Liesbeth, Koopman, Werner J H, Wolf, Nicole I., van Emst-de Vries, S., Smeitink, Jan A.M., Rodenburg, Richard J., Haaxma, Charlotte A, van de Westerlo, Els, Hendriks, Y., van Hasselt, Peter M, Wolf, Nicole I, Koopman, W.J.H., Haaxma, Charlotte A., Küsters, Benno   +46 more
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A Rare Case: NGLY1 Deficiency and Diaphragmatic Eventration

Turkish Archives of Pediatrics
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Ayşe Büşra Pekal, Rümeysa Şevik, Beste Kipçak Yüzbaşı, Olcay Güngör, Kadri Karaer   +4 more
openaire   +1 more source

Anemia and nutrition deficiency in dental practice [PDF]

, 2016
Орофациалните признаци и симптоми, могат да бъдат първото клинично представяне на различните анемии и да насочат вниманите на денталните лекари за необходимо доизясняване на причините и консултация със съответните специалисти.
Krasteva, Assya Zaharieva; Faculty of Dental Medicine Medical University - Sofia
core   +1 more source

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

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

N-Glycanase 1 deficiency modeled in drosophila melanogaster

, 2021
honors thesisSchool of Biological SciencesBiologyClement ChowNGLY1 deficiency is a rare genetic metabolic disorder with ~ 100 reported individuals. The disorder is the only known disorder of deglycosylation and causes an inability to deglycoslate a ...
Berman, Alexys
core  

Primary vs. Secondary Antibody Deficiency: Clinical Features and Infection Outcomes of Immunoglobulin Replacement [PDF]

, 2014
Secondary antibody deficiency can occur as a result of haematological malignancies or certain medications, but not much is known about the clinical and immunological features of this group of patients as a whole. Here we describe a cohort of 167 patients
Matthew Buckland (589995), Lorena Lorenzo (589997), Matthew Buckland, Dempster, J, Duraisingham Sai S., Longhurst Hilary J., Matthew Buckl, Sai S. Duraisingham, Sofia Grigoriadou (589998), Sai S Duraisingham, Hilary J Longhurst, John Dempster, Dempster John, Grigoriadou Sofia, Duraisingham, SS, Lorenzo, L, Buckland Matthew, Grigoriadou, S, Sofia Grigoriadou, Lorenzo Lorena, Sai S. Duraisingham (589994), Buckland, M, Longhurst, HJ, Lorena Lorenzo, John Dempster (589996), Buckland, MS, Hilary J. Longhurst (589999), Hilary J. Longhurst   +27 more
core   +2 more sources

Molecular basis and functional characterization of human 3-methylcrotonyl-CoA carboxylase deficiency [PDF]

, 2009
3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is a rare disorder of leucine catabolism inherited as an autosomal recessive trait. The phenotypic expression of the disease is highly variable, ranging from neonatal onset with severe neurological ...
Dantas, Maria Fernanda
core   +1 more source