Results 21 to 30 of about 375 (74)

NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology. [PDF]

Cells, 2022
Pandey A, Adams JM, Han SY, Jafar-Nejad H.   +3 more
europepmc   +1 more source

Reversibility of motor dysfunction in the rat model of NGLY1 deficiency. [PDF]

Mol Brain, 2021
Asahina M, Fujinawa R, Hirayama H, Tozawa R, Kajii Y, Suzuki T.   +5 more
europepmc   +1 more source

Correction to: Reversibility of motor dysfunction in the rat model of NGLY1 deficiency. [PDF]

Mol Brain, 2021
Asahina M, Fujinawa R, Hirayama H, Tozawa R, Kajii Y, Suzuki T.   +5 more
europepmc   +1 more source

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency. [PDF]

PLoS Genet, 2022
Hope KA, Berman AR, Peterson RT, Chow CY.   +3 more
europepmc   +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

A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency. [PDF]

Elife, 2020
Talsness DM, Owings KG, Coelho E, Mercenne G, Pleinis JM, Partha R, Hope KA, Zuberi AR, Clark NL, Lutz CM, Rodan AR, Chow CY.   +11 more
europepmc   +1 more source

A conserved role for AMP-activated protein kinase in NGLY1 deficiency. [PDF]

PLoS Genet, 2020
Han SY, Pandey A, Moore T, Galeone A, Duraine L, Cowan TM, Jafar-Nejad H.   +6 more
europepmc   +1 more source

NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm. [PDF]

JIMD Rep, 2020
Lipiński P, Bogdańska A, Różdżyńska-Świątkowska A, Wierzbicka-Rucińska A, Tylki-Szymańska A.   +4 more
europepmc   +1 more source

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

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