| ATP6V1A variants are associated with childhood epilepsy with favorable outcome. | ATP6V1A variants are associated with childhood epilepsy with favorable outcome.
Li B, Lan S, Liu XR, Ji JJ, He YY, Zhang DM, Xu J, Sun H, Shi Z, Wang J, Tian Y, China Epilepsy Gene 1.0 Project. | 04/15/2024 |
| Hypoxia promotes EV secretion by impairing lysosomal homeostasis in HNSCC through negative regulation of ATP6V1A by HIF-1alpha. | Hypoxia promotes EV secretion by impairing lysosomal homeostasis in HNSCC through negative regulation of ATP6V1A by HIF-1α.
Wang X, Wu R, Zhai P, Liu Z, Xia R, Zhang Z, Qin X, Li C, Chen W, Li J, Zhang J., Free PMC Article | 03/2/2023 |
| Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. | Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB, DDD Study, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S, Undiagnosed Diseases Network, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R, ATP6V1A collaborators, Masuelli L, Conti V, Novarino G, Fassio A., Free PMC Article | 09/3/2022 |
| Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. | Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer-Zirnsak B., Free PMC Article | 01/22/2022 |
| This study provides evidence that de novo heterozygous ATP6V1A mutations cause a developmental encephalopathy with a pathomechanism that involves perturbations of lysosomal homeostasis and neuronal connectivity. | De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V, C4RCD Research Group, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R., Free PMC Article | 07/13/2019 |
| In conclusion, YY1 may play an important regulatory role in ATP6V1A expression with potential mechanistic and clinical implications in gastric cancer. | Expression and Transcriptional Regulation of Human ATP6V1A Gene in Gastric Cancers.
Wang P, Wang L, Sha J, Lou G, Lu N, Hang B, Mao JH, Zou X., Free PMC Article | 01/12/2019 |
| We report biallelic mutations in ATP6V1E1 and ATP6V1A, respectively encoding the E1 and A subunits of the V1 domain of V-ATPase, as a cause of distinct metabolic and multisystemic cutis laxa entities. | Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA., Free PMC Article | 05/6/2017 |
| V1A subunit of V-ATPase has a role in the progression and prognosis of gastric cancer. | Expression and role of V1A subunit of V-ATPases in gastric cancer cells.
Liu P, Chen H, Han L, Zou X, Shen W. | 03/12/2016 |
| Data show that the cAMP/PKA/CREB signaling pathway initiates acidosis-induced V-ATPase trafficking in salivary ducts via regulation of Rab11b expression. | Acidosis-induced V-ATPase trafficking in salivary ducts is initiated by cAMP/PKA/CREB pathway via regulation of Rab11b expression.
Oehlke O, Schlosshardt C, Feuerstein M, Roussa E. | 10/27/2012 |
| These data introduce Rab11b as a crucial regulator and Rip11 as mediator of acidosis-induced V-ATPase traffic in duct cells of submandibular gland. | Rab11b and its effector Rip11 regulate the acidosis-induced traffic of V-ATPase in salivary ducts.
Oehlke O, Martin HW, Osterberg N, Roussa E. | 01/29/2011 |
| This protein has been found differentially expressed in the Wernicke's Area from patients with schizophrenia. | Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.
Martins-de-Souza D, Gattaz WF, Schmitt A, Novello JC, Marangoni S, Turck CW, Dias-Neto E., Free PMC Article | 05/29/2009 |
| This protein has been found differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. | Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.
Martins-de-Souza D, Gattaz WF, Schmitt A, Maccarrone G, Hunyadi-Gulyás E, Eberlin MN, Souza GH, Marangoni S, Novello JC, Turck CW, Dias-Neto E. | 12/29/2008 |
| there is an important role for physical association between aldolase and the A, B and E subunits of V-ATPase in the regulation of the proton pump | Physical interaction between aldolase and vacuolar H+-ATPase is essential for the assembly and activity of the proton pump.
Lu M, Ammar D, Ives H, Albrecht F, Gluck SL. | 01/21/2010 |