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2022 Sep

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

This was the first and (so far!) only paper where we have the description and clinical information from patients with ATP6V0c gene mutations. link

ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus

2022 May

This study suggests that ATP6V0C is potentially a candidate pathogenic gene of FS and EFS+. Screening for ATP6V0C mutations would help differentiating patients with Dravet syndrome caused by SCN1A mutations, which presented similar clinical manifestation but different responses to antiepileptic treatment. link

Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability

2020 Nov

Case Report of a 16 year-old female with intractable epilepsy and moderate ID with a novel de novo mutation in ATP6V0C link

Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder

2020 Oct

Case Report of a 3.5 year-old male, with microcephaly, autism spectrum disorder and a de novo 16p13.3 microdeletion link

Neurotransmitter release: the dark side of the vacuolar-H+ATPase

2003 Oct

Review on ATP6V0c and neurotransmitter release. link

Chromosomal localization of three vacuolar-H+ -ATPase 16 kDa subunit genes in the murine genome

2002

We have mapped three ATP6V0C genes (Atp6v0c, Atp6v0c-ps1 and Atp6voc-ps2) in the murine genome. (...)

2001 Aug

The murine genome contains one functional gene and two pseudogenes coding for the 16 kDa proteolipid subunit of vacuolar H(+)-ATPase.

Abstract

We cloned the genomic genes encoding the murine 16 kDa subunit (proteolipid, PL16) of vacuolar H(+)-ATPase (V-ATPase) and determined their nucleotide sequences. (...) It is unlikely that PL16 isoforms contribute to variation in V-ATPase function. link

Ductin--a proton pump component, a gap junction channel and a neurotransmitter release channel

1995 Mar

Abstract

Ductin is the highest conserved membrane protein yet found in eukaryotes. It is multifunctional, being the subunit c or proteolipid component of the vacuolar H(+)-ATPase and at the same time the protein component of a form of gap junction in metazoan animals. Analysis of its structure shows it to be a tandem repeat of two 8-kDa domains derived from the subunit c of the F0 proton pore from the F1F0 ATPase. (...)

Molecular cloning of cDNA encoding the 16 KDa subunit of vacuolar H(+)-ATPase from mouse cerebellum

1991 May

Abstract

cDNA for the 16 kDa subunit of vacuolar H(+)-ATPase was cloned from mouse cerebellum and sequenced. The deduced polypeptide (155 amino acid residues; molecular weight, 15,808) was highly hydrophobic and homologous to the subunits of bovine adrenal medulla, Torpedo marmorata electric lobe, Drosophila and yeast. (...)

ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay

2023 May

Siyu Zhao, Xiaoling Zhang, Le Yang, Yan Wang, ShanShan Jia, Xia Li, Zhijing Wang, Fan Yang, Mengmeng Liang, Xiuxia Wang, Dong Wang. link

Regulation of the mammalian-brain V-ATPase through ultraslow mode-switching

2022 Nov

Eleftherios Kosmidis, Christopher G. Shuttle, Julia Preobraschenski, Marcelo Ganzella, Peter J. Johnson, Salome Veshaguri, Jesper Holmkvist, Mads P. Møller, Orestis Marantos, Frank Marcoline, Michael Grabe, Jesper L. Pedersen, Reinhard Jahn & Dimitrios Stamou. link

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

2023 Apr

Prajna Udupa, Debasish Kumar Ghosh, Neethukrishna Kausthubham, Hitesh Shah, Sandip Bartakke, Ashwin Dalal, Katta M Girisha, and Gandham SriLakshmi Bhavani link

Structural basis of V-ATPase VO region assembly by Vma12p, 21p, and 22p

2023 Feb

Hanlin Wang, Stephanie A. Bueler, and John L. Rubinstein link

A Role for the V0 Sector of the V-ATPase in Neuroexocytosis: Exogenous V0d Blocks Complexin and SNARE Interactions with V0c

2023 Feb

Christian Lévêque, Yves Maulet, Qili Wang, Marion Rame, Léa Rodriguez, Sumiko Mochida, Marion Sangiardi, Fahamoe Youssouf, Cécile Iborra, Michael Seagar, Nicolas Vitale, and Oussama El Far link