Last update 19 Sep 2024

ATP10B

Last update 19 Sep 2024

Basic Info

Synonyms

ATP10B, ATPase class V type 10B, ATPase phospholipid transporting 10B (putative)

+ [6]

Introduction

Catalytic component of a P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of glucosylceramide (GlcCer) from the outer to the inner leaflet of lysosome membranes. Plays an important role in the maintenance of lysosome membrane integrity and function in cortical neurons.

Drugs associated with ATP10B

p-type ATPase agonists(Centre for Drug Design & Discovery)

Target

ATP10B x ATP13A2

Mechanism

ATP10B agonists [+1]

Active Org.

Centre for Drug Design & Discovery

Originator Org.

Centre for Drug Design & Discovery

Active Indication

Parkinson Disease

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with ATP10B

100 Translational Medicine associated with ATP10B

0 Patents (Medical) associated with ATP10B

Literatures (Medical) associated with ATP10B

01 Jul 2024·Parkinsonism & Related Disorders

Role of ATP10B in Parkinson disease in a cohort from southern Spain

Article

Author: Macías-García, Daniel ; Adarmes-Gómez, Astrid ; Pineda-Sánchez, Rocío ; Muñoz-Delgado, Laura ; Periñán, María Teresa ; Buiza-Rueda, Dolores ; García-Díaz, Sergio ; Ojeda, Elena ; Mir, Pablo ; Martín-Bornez, Miguel ; Bonilla-Toribio, Marta ; Gómez-Garre, Pilar ; Jesús, Silvia ; Carrillo, Fátima ; Díaz-Belloso, Rafael

The ATP10B gene has been proposed to play an important role in the development of early-onset Parkinson's disease (PD). Nevertheless, various studies have presented controversial conclusions regarding the involvement of this gene in PD. Here, we screened 1162 patients with PD, employing a targeted resequencing approach to investigate the putative relevance of this gene in a large independent cohort of these patients from southern Spain. Variations were classified according to the American College of Medical Genetics and Genomics criteria. Association studies were performed using data of a representative healthy Spanish population from the Medical Genome Project. Frequent variants were excluded. A total of 68 variants (rare or very rare) were detected in our cohort. Among ATP10B variant carriers, 12.9 % were putative compound heterozygous carriers; of these, 25 % were patients with early-onset PD. No evidence of a relation between any rare variants of ATP10B and PD risk was observed. Therefore, our results do not support a role for ATP10B in the onset of PD, or in the risk of developing it.

01 Feb 2024·Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

The lipid flippase ATP10B enables cellular lipid uptake under stress conditions

Review

Author: Wouters, Rosanne ; Beletchi, Igor ; Van den Haute, Chris ; Martin, Shaun ; Vangheluwe, Peter ; Baekelandt, Veerle ; Eggermont, Jan

Pathogenic ATP10B variants have been described in patients with Parkinson's disease and dementia with Lewy body disease, and we previously established ATP10B as a late endo-/lysosomal lipid flippase transporting both phosphatidylcholine (PC) and glucosylceramide (GluCer) from the lysosomal exoplasmic to cytoplasmic membrane leaflet. Since several other lipid flippases regulate cellular lipid uptake, we here examined whether also ATP10B impacts cellular lipid uptake. Transient co-expression of ATP10B with its obligatory subunit CDC50A stimulated the uptake of fluorescently (NBD-) labeled PC in HeLa cells. This uptake is dependent on the transport function of ATP10B, is impaired by disease-associated variants and appears specific for NBD-PC. Uptake of non-ATP10B substrates, such as NBD-sphingomyelin or NBD-phosphatidylethanolamine is not increased. Remarkably, in stable cell lines co-expressing ATP10B/CDC50A we only observed increased NBD-PC uptake following treatment with rotenone, a mitochondrial complex I inhibitor that induces transport-dependent ATP10B phenotypes. Conversely, Im95m and WM-115 cells with endogenous ATP10B expression, present a decreased NBD-PC uptake following ATP10B knockdown, an effect that is exacerbated under rotenone stress. Our data show that the endo-/lysosomal lipid flippase ATP10B contributes to cellular PC uptake under specific cell stress conditions.

01 Aug 2023·Journal of Neurology

Recent advances in novel mutation genes of Parkinson's disease

Review

Author: Wu, Xinyu ; Yang, Jie ; Song, Yuning

With increasing life expectancy, a growing number of individuals are being affected by Parkinson's Disease (PD), a Neurodegenerative Disease (ND). Approximately, 5-10% of PD is explained by genetic causes linked to known PD genes. With improvements in genetic testing and high-throughput technologies, more PD-associated susceptibility genes have been reported in recent years. However, a comprehensive review of the pathogenic mechanisms and physiological roles of these genes is still lacking. This article reviews novel genes with putative or confirmed pathogenic mutations in PD reported since 2019, summarizes the physiological functions and potential associations with PD. Newly reported PD-related genes include ANK2, DNAH1, STAB1, NOTCH2NLC, UQCRC1, ATP10B, TFG, CHMP1A, GIPC1, KIF21B, KIF24, SLC25A39, SPTBN1 and TOMM22. However, the evidence for pathogenic effects of many of these genes is inconclusive. A variety of novel PD-associated genes have been identified through clinical cases of PD patients and analysis of Genome-Wide Association Studies (GWAS). However, more evidence is needed in confirm the strong association of novel genes with disease.

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