Results 111 to 120 of about 1,211 (133)

Mitochondrial nucleic acid as a driver of pathogenic type I interferon induction in Mendelian disease

, 2021
Crow, Yanick J, Lepelley, Alice, Wai, Timothy   +2 more
core   +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

Wikidata as a knowledge graph for the life sciences [PDF]

, 2020
et al.,, Griffith, Malachi, Griffith, Obi L, Waagmeester, Andra   +3 more
core   +1 more source

Therapeutic Potential of C1-Inhibitor in Vascular Diseases and Beyond. [PDF]

Arterioscler Thromb Vasc Biol
Sundler Björkman L, Eswaran H, Grover SP.   +2 more
europepmc   +1 more source

The evolving spectrum of complex inherited neuropathies. [PDF]

Curr Opin Neurol
Rossor AM, Haddad S, Reilly MM.
europepmc   +1 more source

Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis. [PDF]

Front Genet
Brito F, Lagos C, Cubillos J, Orellana J, Gajardo M, Böhme D, Encina G, Repetto GM.   +7 more
europepmc   +1 more source

Investigating the Role of the Zinc Finger Protein ZC2HC1C on Autism Spectrum Disorder Susceptibility. [PDF]

Medicina (Kaunas)
Treccarichi S, Vinci M, Musumeci A, Rando RG, Papa C, Saccone S, Federico C, Failla P, Ruggieri M, Calì F, Polizzi A, Praticò A.   +11 more
europepmc   +1 more source

Cytosolic UDP-Gal biosynthetic machinery is required for dimerization of SLC35A2 in the Golgi membrane and its interaction with B4GalT1. [PDF]

Front Mol Biosci
Wiertelak W, Pavlovskyi A, Olczak M, Maszczak-Seneczko D.   +3 more
europepmc   +1 more source

NFE2L1 as a central regulator of proteostasis in neurodegenerative diseases: interplay with autophagy, ferroptosis, and the proteasome. [PDF]

Front Mol Neurosci
Khodadadi H, Łuczyńska K, Winiarczyk D, Leszczyński P, Taniguchi H.   +4 more
europepmc   +1 more source