Results 71 to 80 of about 756 (108)

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

J Exp Med
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   +1 more source

Cardiac Markers in Pediatric Laboratory Medicine: Critical Review. [PDF]

Diagnostics (Basel)
Zrinski Topic R, Lenicek Krleza J.
europepmc   +1 more source

Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome. [PDF]

J Hum Immun
Andersen S, Assing K, Jensen J, Rasmussen LD, Laursen CB, Dellgren CD, Hinke DM, Degn SE, Mogensen TH.   +8 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation

European Journal of Medical Genetics, 2020
Congenital disorder of N-linked deglycosylation (CDDG, MIM 615273) is a very rare autosomal recessive disorder caused by pathogenic variants in the NGLY1 gene. Transient transaminitis is the typical hepatic dysfunction described in these patients, but also included neonatal jaundice, hepatomegaly, splenomegaly, and steatosis.
Izabel Maryalexandra, Rios-Flores, Miguel Ángel, Bonal-Pérez, Abril, Castellanos-González, Ezequiel, Velez-Gómez, Aida M, Bertoli-Avella, Lucina, Bobadilla-Morales, Christian, Peña-Padilla, Valentina, Appendini-Andrade, Alfredo, Corona-Rivera, Ivón, Romero-Valenzuela, Jorge Román, Corona-Rivera   +10 more
openaire   +3 more sources

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Molecular Genetics and Metabolism, 2019
NGLY1-CDDG is a congenital disorder of deglycosylation caused by a defective peptide:N-glycanase (PNG). To date, all but one of the reported patients have been diagnosed through whole-exome or whole-genome sequencing, as no biochemical marker was available to identify this disease in patients.
Haijes, Hanneke A., de Sain-van der Velden, Monique G. M., Prinsen, Hubertus C. M. T., Willems, Anke P., van der Ham, Maria, Gerrits, Johan, Couse, Madeline H., Friedman, Jan M., van Karnebeek, Clara D. M., Selby, Kathryn A., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J. M.   +12 more
openaire   +5 more sources

Glycoproteomics of N‐glycosylation by in‐gel deglycosylation and matrix‐assisted laser desorption/ionisation‐time of flight mass spectrometry mapping: Application to congenital disorders of glycosylation

PROTEOMICS, 2005
AbstractA general strategy for the structural evaluation of N‐glycosylation, a common post‐translational protein modification, is presented. The methods for the release of N‐linked glycans from the gel‐separated proteins, their isolation, purification and matrix‐assisted laser desorption/ionisation‐mass spectrometry (MALDI‐MS) analysis of their ...
Dijana, Sagi, Petra, Kienz, Jonas, Denecke, Thorsten, Marquardt, Jasna, Peter-Katalinić   +4 more
openaire   +3 more sources

Abstract A28: Identification of NGLY1-mediated protein deglycosylation as a vulnerable point in melanoma

Cancer Research, 2020
Although NGLY1 is known as a pivotal enzyme that catalyzes the deglycosylation of denatured glycoproteins, information regarding the responses of human cancer and normal cells to NGLY1 suppression is limited.
Victor. J. T. Lin, A. Zolekar, N. Mishra, Y. Ho, Hamed S. Hayatshahi, Abhishek Parab, R. Sampat, X. Liao, P. Hoffmann, Jin Liu, K. Emmitte, Yu-Chieh Wang   +11 more
semanticscholar   +1 more source

Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37

Sexual Development, 2021
Missense variants in the RNA-helicase DHX37 are associated with either 46,XY gonadal dysgenesis or 46,XY testicular regression syndrome (TRS). DHX37 is required for ribosome biogenesis, and this subgroup of XY DSD is a new human ribosomopathy.
Housna Zidoune, L. Martinerie, D. Tan, Masomeh Askari, Djalila Rezgoune, A. Ladjouze, A. Boukri, Yasmina Benelmadani, K. Sifi, N. Abadi, D. Satta, Mandana Rastari, Mehrshad Seresht-Ahmadi, J. Bignon-Topalovic, I. Mazen, J. Léger, D. Simon, R. Brauner, M. Totonchi, R. Jauch, A. Bashamboo, K. McElreavey   +21 more
semanticscholar   +1 more source

NGLY1 deficiency: Novel variants and literature review.

European Journal of Medical Genetics, 2021
NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders.
A. Kariminejad, M. Shakiba, M. Shams, P. Namiranian, M. Eghbali, S. Talebi, Mina Makvand, J. Jaeken, H. Najmabadi, R. Hennekam   +9 more
semanticscholar   +1 more source

Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient.

European Journal of Medical Genetics, 2022
NGLY1 deficiency is a rare congenital disorder of deglycosylation with a unique constellation of symptoms that include hypo- or alacrima, movement disorder, epilepsy, and severe intellectual disability (OMIM #615273).
D. K. Nolan, M. Pastore, K. McBride
semanticscholar   +1 more source