The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice
J Rousseau, SB Tene Tadoum, M Lavertu Jolin… - Genes, 2023 - mdpi.com
The vacuolar H+-ATPase is a multisubunit enzyme which plays an essential role in the
acidification and functions of lysosomes, endosomes, and synaptic vesicles. Many genes …
acidification and functions of lysosomes, endosomes, and synaptic vesicles. Many genes …
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype
D Veltra, K Kosma, A Papavasiliou… - American Journal of …, 2022 - Wiley Online Library
Abstract ATP6V1B2 pathogenic variants are linked with variable phenotypes, such as
dominant deafness‐onychodystrophy syndrome (DDOD), autosomal dominant Zimmermann …
dominant deafness‐onychodystrophy syndrome (DDOD), autosomal dominant Zimmermann …
Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux
S Qiu, W Zhao, X Gao, D Li, W Wang, B Gao… - Frontiers in Cell and …, 2021 - frontiersin.org
ATP6V1B2 encodes the V1B2 subunit in V-ATPase, a proton pump responsible for the
acidification of lysosomes. Mutations in this gene cause DDOD syndrome, DOORS …
acidification of lysosomes. Mutations in this gene cause DDOD syndrome, DOORS …
Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model
W Sheng, P Wang, Y Cai, C Zhai, H Wang, F Zhou… - Clinical … - Wiley Online Library
Abstract ATP6V1B2 encodes the subunit of the vacuolar H+‐ATPase, which is an enzyme
responsible for the acidification of intracellular organelles and essential for cell signaling …
responsible for the acidification of intracellular organelles and essential for cell signaling …
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
The vacuolar H+-ATPase is a large multi-subunit proton pump, composed of an integral
membrane V0 domain, involved in proton translocation, and a peripheral V1 domain …
membrane V0 domain, involved in proton translocation, and a peripheral V1 domain …
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
KA Mattison, G Tossing, F Mulroe, C Simmons… - Brain, 2023 - academic.oup.com
The vacuolar H+-ATPase is an enzymatic complex that functions in an ATP-dependent
manner to pump protons across membranes and acidify organelles, thereby creating the …
manner to pump protons across membranes and acidify organelles, thereby creating the …
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy
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 additional and …
regulates pH homeostasis in all eukaryotic cells; in neurons, v-ATPase plays additional and …
Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms
K Indrawinata, P Argiropoulos, S Sugita - Frontiers in molecular …, 2023 - frontiersin.org
The vacuolar-type ATPase (V-ATPase) is a multisubunit protein composed of the cytosolic
adenosine triphosphate (ATP) hydrolysis catalyzing V1 complex, and the integral membrane …
adenosine triphosphate (ATP) hydrolysis catalyzing V1 complex, and the integral membrane …
Rare human ATP6V1A variants provide unique insights into V-ATPase functions
M Groszer - Brain, 2022 - academic.oup.com
Rare human ATP6V1A variants provide unique insights into V-ATPase functions | Brain | Oxford
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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis
Abstract Vacuolar-type H+-ATPase (V-ATPase) is a multimeric complex present in a variety
of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in …
of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in …