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steric hindrance

Overview page. Subjects: Chemistry.

An effect in which a chemical reaction is slowed down or prevented because large groups on a reactant molecule hinder the approach of another reactant molecule.

See overview in Oxford Index

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

Anna Fassio, Alessandro Esposito, Mitsuhiro Kato, Hirotomo Saitsu, Davide Mei, Carla Marini, Valerio Conti, Mitsuko Nakashima, Nobuhiko Okamoto, Akgun Olmez Turker, Burcu Albuz, C Nur Semerci Gündüz, Keiko Yanagihara, Elisa Belmonte, Luca Maragliano, Keri Ramsey, Chris Balak, Ashley Siniard, Vinodh Narayanan, Chihiro Ohba, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto, Fabio Benfenati and Renzo Guerrini.

in Brain

June 2018; p ublished online April 2018 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 8919 words.

Abstract

V-type proton (H+) ATPase (v-ATPase) is a multi-subunit proton pump that regulates pH homeostasis in all eukaryotic cells; in neurons, v-ATPase plays...