Results 81 to 90 of about 422,094 (137)

An in vivo small molecule screen to identify therapeutics for NGLY1 deficiency

, 2020
Presentation of poster 1993A at TAGC 2020 Online. Files include a PDF of the poster (TAGC_2020_Poster_Hope_Final.pdf)
Hope, Kevin A., T. Peterson, Randall, Y. Chow, Clement   +2 more
openaire   +1 more source

Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency

, 2019
Homozygous mutations in NGLY1 were recently found to cause a condition characterized by a complex neurological syndrome, hypo- or alacrimia, and elevated liver transaminases. For yet unknown reasons, mortality is increased in patients with this condition.
Finken, Martijn J. J., van Keulen, Britt J., Rotteveel, Joost   +2 more
core   +1 more source

Effect of Calcium Deficiency on Growth and Leaf Acid Soluble Proteins of Tomato [PDF]

, 2007
The effects of temporary Ca (Ca) calcium deficiency lasting 2, 3, 4 or 5 d were investigated on tomato plants at the 6-leaf stage, grown hydroponically under controlled conditions.
Silvestre, Jérôme, Pinelli, Eric, Baboulène, Laurence, Morard, Philippe   +3 more
core   +1 more source

Temporary nutrient deficiency - a difficult case for diagnosis and prognosis by plant analysis [PDF]

, 2000
Plant analysis aims to either detect deficiency at the time of sampling (diagnosis) or predict its occurrence at a later stage of growth (prognosis). Its use is based on the presumption that the plant nutrient status will either be constant with plant ...
Richard W. Bell, Bell, R.W.
core   +1 more source

Stress and interferon signalling-mediated apoptosis contributes to pleiotropic anticancer responses induced by targeting NGLY1

, 2018
BACKGROUND: Although NGLY1 is known as a pivotal enzyme that catalyses the deglycosylation of denatured glycoproteins, information regarding the responses of human cancer and normal cells to NGLY1 suppression is limited.
Ho, Yin Ying, Kyle A. Emmitte, Sampat, R., Abhishek Parab, Emmitte, Kyle A., Victor. J. T. Lin, Emmitte, K.A., Jin Liu, Mishra, N.M., Wang, Y.C., Parab, Abhishek, Wang, Yu-Chieh, Hoffmann, P., Parab, A., Lin, Victor J. T., Liu, J., Zolekar, A., Xiaoyan Liao, Hoffmann, Peter, Ashwini Zolekar, Hamed S. Hayatshahi, Yu-Chieh Wang, Liu, Jin, Lin, V.J.T., Nigam M. Mishra, Hayatshahi, H.S., Liao, X., Peter Hoffmann, Ho, Y.Y., Liao, Xiaoyan, Zolekar, Ashwini, Hayatshahi, Hamed S., Sampat, Rohit, Rohit Sampat, Mishra, Nigam M., Yin Ying Ho   +35 more
core   +1 more source

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

, 2019
Background: 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
Jans, Judith J.M., Prinsen, Hubertus C. M. T., Willems, Anke P., Couse, Madeline H., Verhoeven-Duif, Nanda M., de Sain-van der Velden, Monique G. M., Jans, Judith J. M., van Karnebeek, Clara D.M., van der Ham, Maria, Friedman, Jan M., Gerrits, Johan, de Sain-van der Velden, Monique G.M., Prinsen, Hubertus C.M.T., van Karnebeek, Clara D. M., Haijes, Hanneke A., Selby, Kathryn A., van Hasselt, Peter M.   +16 more
core   +1 more source

High risk of severe anaemia after chlorproguanil-dapsone+artesunate antimalarial treatment in patients with G6PD (A-) deficiency. [PDF]

, 2008
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited human enzyme defect. This deficiency provides some protection from clinical malaria, but it can also cause haemolysis after administration of drugs with oxidant ...
Modiano David, Fanello, C. I., Modiano, D., Karema, C., Lee, Sue, Bancone Germana, Uwimana, A, KAREMA C, Avellino Pamela, David Modiano, UWIMANA A, Uwimana, A., Fanello, CI, Germana Bancone, d'Alessandro Umberto, LEE SJ, Umberto d'Alessandro, Uwimana, Aline, Karema, C, Lee Sue J., Avellino, P, Modiano, D, Karema Corine, Pamela Avellino, Karema, Corine, D'Alessandro, U., D'ALESSANDRO U, Bancone, Germana, d'Alessandro, Umberto, Fanello Caterina I., Modiano, David, FANELLO CI, Fanello, Caterina I, Lee, S. J., Lee, Sue J, Sue J Lee, Corine Karema, Uwimana Aline, Aline Uwimana, D'Alessandro, U, Avellino, Pamela, Avellino, P., Caterina I Fanello, Bancone, G.   +43 more
core   +2 more sources

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

, 2015
N-glycanase 1 (NGLY1) is a conserved enzyme that is responsible for the deglycosylation of misfolded N-glycosylated proteins in the cytoplasm prior to their proteasome-mediated degradation.
Dolen, Duygu, Kaymakcalan, Hande, FREEZE, Hudson H., Baranoski, Jacob F., Caglar, Caner, Caglayan, Ahmet Okay, Mishra-Gorur, Ketu, Parman, Yesim, COMU, Sinan, Akgumus, Gozde Tugce, Bilguvar, Kaya, Harmanci, Akdes Serin, Gunel, Murat, Erson-Omay, Emine Zeynep, Yasuno, Katsuhito   +14 more
core   +1 more source

JF1/B6F1 Ngly1^-/- mouse as an isogenic animal model of NGLY1 deficiency. [PDF]

Proc Jpn Acad Ser B Phys Biol Sci, 2021
Asahina M, Fujinawa R, Fujihira H, Masahara-Negishi Y, Andou T, Tozawa R, Suzuki T.   +6 more
europepmc   +1 more source