Results 61 to 70 of about 756 (108)

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

The evolving spectrum of complex inherited neuropathies. [PDF]

Curr Opin Neurol
Rossor AM, Haddad S, Reilly MM.
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

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

Uncovering Phenotypic Expansion in AXIN2-Related Disorders Using Precision Animal Modeling

medRxiv
N. M. Aceves-Ewing, D. Lanza, P. Marcogliese, D. Lu, C.-W. Hsu, M. Gonzalez, A. Christiansen, T. Rasmussen, A. J. Ho, A. Gaspero, J. Seavitt, M. Dickinson, B. Yuan, B. Shayota, S. Pachter, X. Hu, D. L. Day-Salvatore, L. Mackay, O. Kanca, M. Wangler, L. Potocki, J. Rosenfeld, R. A. Lewis, H.-T. Chao, B. Lee, S. Lee, Baylor College of Medicine Center for Precision Me, Undiagnosed Diseases Network, S. Yamamoto, H. Bellen, L. C. Burrage, J. Heaney   +31 more
semanticscholar   +1 more source

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2. [PDF]

Mol Genet Genomic Med
Fan S, Wu H, Wang R, Chen Q, Zhang X.
europepmc   +1 more source

Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts. [PDF]

Proteomics
Budhraja R, Joshi N, Radenkovic S, Kozicz T, Morava E, Pandey A.   +5 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