Results 101 to 110 of about 422,094 (137)

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

TUSC3 serves as a rate-limiting gatekeeper of a glycan-mediated ER triage checkpoint for BMP4/Dpp. [PDF]

Cell Rep
Galeone A, Solazzo E, Lavezzari F, Han SY, Consonni G, My B, Rizzo R, Gigli G, Jafar-Nejad H, Vaccari T.   +9 more
europepmc   +1 more source

Ubiquitin beyond the proteome: lipids, glycans, metabolites, nucleic acids, and an expanding molecular landscape. [PDF]

Biochem Soc Trans
Endo A, Yoshida Y.
europepmc   +1 more source

Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease. [PDF]

Bioorg Med Chem Lett, 2017
Bi Y, Might M, Vankayalapati H, Kuberan B.   +3 more
europepmc   +1 more source

Taking the STING out of neurodegenerative disease. [PDF]

J Exp Med
Mangalmurti A, Lukens JR.
europepmc   +1 more source

Comparative proteomics of HepG2 cells reveals NGLY1 as an important regulator of ferroptosis resistance and iron uptake. [PDF]

PLoS One
Emmerson S, Fujihira H, Suzuki T, Dohmae N, Greimel P, Hirabayashi Y, Suzuki T.   +6 more
europepmc   +1 more source

Increased oxidative stress and autophagy in NGLY1 patient iPSC-derived neural stem cells. [PDF]

Exp Cell Res
Shyr ZA, Amniouel S, Owusu-Ansah K, Tambe M, Abbott J, Might M, Zheng W.   +6 more
europepmc   +1 more source

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source

Quantifying Kinematic Tremor in an NGLY1-Deficient Individual: A Case Study

Case Reports in Clinical Medicine
Brock Futrell, Christopher Alexander Malaya, Dacia Martinez Diaz, Christian Alfaro, Hannah Elizabeth Gustafson, Subhalakshmi Chandrasekaran, Rhea Mohan Phatak, Bernhard Suter, Charles Shannon Layne   +8 more
openaire   +1 more source

Glycosylation disorders in pediatric epilepsy: pathophysiology, imaging and precision therapy. [PDF]

Front Neurol
Fan L, Shen Y, Wang J, Gan J.
europepmc   +1 more source