Results 31 to 40 of about 375 (74)

Natural SEL1L variants rescue a model of NGLY1 deficiency and modify ERAD function and proteasome sensitivity. [PDF]

PLoS Genet
Tu'ifua TK, Chow CY.
europepmc   +1 more source

Systemic gene therapy corrects the neurological phenotype in a mouse model of NGLY1 deficiency. [PDF]

JCI Insight
Du A, Yang K, Zhou X, Ren L, Liu N, Zhou C, Liang J, Yan N, Gao G, Wang D.   +9 more
europepmc   +1 more source

Intranasal oxytocin suppresses seizure-like behaviors in a mouse model of NGLY1 deficiency. [PDF]

Commun Biol
Makita Y, Asahina M, Fujinawa R, Yukitake H, Suzuki T.   +4 more
europepmc   +1 more source

Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry. [PDF]

Orphanet J Rare Dis, 2019
Cahan EM, Frick SL.
europepmc   +1 more source

Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency. [PDF]

G3 (Bethesda), 2018
Rodriguez TP, Mast JD, Hartl T, Lee T, Sand P, Perlstein EO.   +5 more
europepmc   +1 more source

Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation. [PDF]

JIMD Rep, 2019
Chang CA, Wei XC, Martin SR, Sinasac DS, Al-Hertani W.   +4 more
europepmc   +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. [PDF]

Dis Model Mech, 2019
Iyer S, Mast JD, Tsang H, Rodriguez TP, DiPrimio N, Prangley M, Sam FS, Parton Z, Perlstein EO.   +8 more
europepmc   +1 more source

Progressive neurodegeneration, motor decline, and premature mortality in aging Ngly1 deficient rats. [PDF]

Orphanet J Rare Dis
Zhu L, Dwight S, Mueller WF, Schweighardt B.   +3 more
europepmc   +1 more source

NGLY1 as an Emerging Critical Modulator for Neurodevelopment and Pathogenesis in the Brain. [PDF]

Int J Mol Sci
Zhang H, Xue H, Wang YC, Liu Y.
europepmc   +1 more source

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation. [PDF]

Sci Adv
Wang R, Wang F, DeBruyne N, Ji X, Engelhardt NM, Park JJ, Notaro A, Gaerlan S, Park R, Schultz MJ, Clever S, McCormick EM, Keith K, Ng BG, Kadash-Edmondson KE, Freeze HH, Lam CT, Morava E, Helbig I, Falk MJ, Ganetzky RD, Edmondson AC, Lin L, Xing Y.   +23 more
europepmc   +1 more source