Results 101 to 110 of about 933 (165)

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  

Additional file 1 of NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

Additional file 1. Supplementary Tables 1–3 and Supplementary Figures 1–3.
Stanclift, Caroline R., Dwight, Selina S., Lee, Kevin, Eijkenboom, Quirine L., Wilsey, Matt, Wilsey, Kristen, Kobayashi, Erica Sanford, Tong, Sandra, Bainbridge, Matthew N.   +8 more
openaire   +1 more source

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

N-Glycanase-1-Mangel – Charakterisierung von Genvarianten [PDF]

N-Glycanase-1-Mangel ist eine kongenitale Störung der Deglykosylierung. Die Krankheit ist durch fünf Kernsymptome geprägt: globale Entwicklungsverzögerung, Choreoathetose, Erhöhung von Leberwerten in Blutuntersuchungen, Hypo-/Alakrimie und eine ...
Orczyk, Ralph Rene
core   +1 more source

REGULATION OF NORMAL CEREBRAL DEVELOPMENT AND MELANOCYTIC ONCOPATHOLOGY BY N-GLYCANASE 1

, 2021
The congenital disorders of glycosylation (CDG) are a group of diseases with inborn errors in metabolism that result from the improper glycosylation of necessary biological molecules.
Lin, Victor J.T.
core  

Targeting Wnt signaling with GSK3 inhibition restores pathway activity in NGLY1-deficient mouse embryonic fibroblasts

NGLY1 deficiency is a rare congenital disorder caused by mutations in the NGLY1 gene, which encodes an enzyme responsible for deglycosylating misfolded glycoproteins prior to proteasomal degradation.
Ghannad Zadeh, Rojin
core  

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort

Background NGLY1 deficiency is an ultra-rare multisystem disorder characterized by developmental delay, hyperkinetic movement disorder, hypo-/alacrimia, peripheral neuropathy, and elevated transaminases.
Kilic, Mustafa, Teke-Kisa, PELİN, Yilmaz-Gumus, Emel, Ozturk-Hismi, Burcu, Tas, Ibrahim, Demir, Senol, Dursun, Ali, GÜLBAHÇE, ALİYE, Kosukcu, Can, Onal, Hasan, KILAVUZ, SEBİLE, Cakar, Nafiye Emel, Er, Esra, Kardas, Fatih, Turkdogan, Dilsad, Aydogan, Ayca, Akar, Halil Tuna, Gunes, Hatice, Genc, Emine, Akbeyaz, Ismail Hakki   +19 more
core   +1 more source

A High Throughput and Integrative Approach to Evaluating the Functional Significance of a Glycosidase NGLY1 in Human Brain Development

, 2017
Research Appreciation Day Award Winner - 2017 Community Awards, Quest Diagnostics Research AwardResearch Appreciation Day Award Winner - 2017 Institute for Healthy Aging Poster AwardResearch Appreciation Day Award Winner - 2017 Graduate School of ...
Lin, Victor, Zolekar, Ashwini, Wang, Jack, Shakhbazau, Antos   +3 more
core  

Natural history of NGLY1 deficiency: motor function & clinical features. [PDF]

Hum Mol Genet
Morrison G, Dwight S, Landy H, Mueller WF, Ventola P, Deck R, Schweighardt B, Wilsey M, Lee KJ, Suter B.   +9 more
europepmc   +1 more source

Deglycosylation at War: Host N-Glycoprotein Remodeling in Infection and Immunity. [PDF]

Infect Drug Resist
Qian X, Wang J, Zhang Y, Lin Q, Ye Y, Lin J, Lu X, Yuan S, Chen L, Sun G.   +9 more
europepmc   +1 more source