Results 191 to 200 of about 1,572,777 (263)

Advances in the DMSO reductase family: From discovery to mechanism. [PDF]

Curr Opin Chem Biol
Giri NC, Basu P.
europepmc   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Co-segregation of <i>WFS1</i> p.Gly494Ser variant with recurrent vasovagal syncope in a multigenerational family: a candidate susceptibility variant needing independent validation. [PDF]

Front Pediatr
Guo X, Chen J, Wang X, Zheng X, Yang F.
europepmc   +1 more source

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families. [PDF]

Hum Mutat
Khan H, Bukhari S, Ahmad N, Bhutto IA, Mahsood YJ, Haroon MI, Uddin MM, Memon AS, Rehman AU, Zainab S, Munir A, Ali SHB, Ajmal M, Qamar R, Hirbo J, Azam M, Ayub H.   +16 more
europepmc   +1 more source

Genetic association meta-analysis is susceptible to confounding by between-study cryptic relatedness. [PDF]

HGG Adv
Tu T, Ochoa A.
europepmc   +1 more source

Global-Scale Patterns of Host Transitions Suggest Contrasting Levels of Specialization Within <i>Rhizoctonia solani</i>. [PDF]

Ecol Evol
Khoo XZ, Harveson RM, Garcia-Aroca T.
europepmc   +1 more source