{"version":"https://jsonfeed.org/version/1","title":"v-ATPase Alliance","home_page_url":"https://vatpasealliance.org","description":"v-ATPase Alliance","author":{"name":"v-ATPase Alliance"},"items":[{"id":"https://vatpasealliance.org/dump-content/f/the-why-behind-the-urgency-grounded-in-scientific-observation","html_content":"<p>Finding buried genetic test results in the electronic health record is inefficient and variable across institutions</p>","url":"https://vatpasealliance.org/dump-content/f/the-why-behind-the-urgency-grounded-in-scientific-observation","title":"The \"why\" behind the urgency, grounded in scientific observation!","summary":"Finding buried genetic test results in the electronic health record is inefficient and variable across institutions","date_modified":"2025-07-16T20:28:23Z"},{"id":"https://vatpasealliance.org/dump-content/f/genetic-disorders-in-kids-early-diagnosis-is-key","html_content":"<p>Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay</p>","url":"https://vatpasealliance.org/dump-content/f/genetic-disorders-in-kids-early-diagnosis-is-key","title":"Genetic Disorders in Kids: Early Diagnosis is Key","summary":"Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay","date_modified":"2025-07-01T01:00:00Z"},{"id":"https://vatpasealliance.org/dump-content/f/endosome-map-reveals-v-atpase-is-1-of-endosomal-connections","html_content":"<p>EndoMAP.v1 charts the structural landscape of human early endosome complexes</p>","url":"https://vatpasealliance.org/dump-content/f/endosome-map-reveals-v-atpase-is-1-of-endosomal-connections","title":"Endosome Map reveals v-ATPase IS #1 of Endosomal  Connections","summary":"EndoMAP.v1 charts the structural landscape of human early endosome complexes","date_modified":"2025-06-12T09:58:18Z"},{"id":"https://vatpasealliance.org/dump-content/f/diagnostic-odyssey-of-patients-with-rare-diseases","html_content":"<p>The cost of the diagnostic odyssey of patients with suspected rare diseases </p>","url":"https://vatpasealliance.org/dump-content/f/diagnostic-odyssey-of-patients-with-rare-diseases","title":"Diagnostic Odyssey of Patients with Rare Diseases","summary":"The cost of the diagnostic odyssey of patients with suspected rare diseases ","date_modified":"2025-05-13T13:56:32Z"},{"id":"https://vatpasealliance.org/dump-content/f/atp6v1a-linked-with-epilepsy-jun-2018","html_content":"<p> De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy </p>","url":"https://vatpasealliance.org/dump-content/f/atp6v1a-linked-with-epilepsy-jun-2018","title":"ATP6V1A linked with Epilepsy (Jun 2018)","summary":" De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy ","date_modified":"2024-10-29T13:50:47Z"},{"id":"https://vatpasealliance.org/dump-content/f/v-atpase-and-iron-metabolism","html_content":"<p>Impaired lysosomal acidification triggers iron deficiency and inflammation in vivo</p>","url":"https://vatpasealliance.org/dump-content/f/v-atpase-and-iron-metabolism","title":"v-ATPase and Iron metabolism (Dec 2019)","summary":"Impaired lysosomal acidification triggers iron deficiency and inflammation in vivo","date_modified":"2024-01-12T11:22:28Z"},{"id":"https://vatpasealliance.org/dump-content/f/v-atpase-structure-mar-2020","html_content":"<p>Structure of V-ATPase from the mammalian brain</p>","url":"https://vatpasealliance.org/dump-content/f/v-atpase-structure-mar-2020","title":"v-ATPase Structure (Mar 2020)","summary":"Structure of V-ATPase from the mammalian brain","date_modified":"2023-08-22T19:27:21Z"},{"id":"https://vatpasealliance.org/dump-content/f/atp6v0a1-apr-2021-1","html_content":"<p>ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice</p>","url":"https://vatpasealliance.org/dump-content/f/atp6v0a1-apr-2021-1","title":"ATP6V0A1 (Apr 2021) -  Case Report","summary":"ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice","date_modified":"2023-08-18T03:03:14Z"},{"id":"https://vatpasealliance.org/dump-content/f/atp6v0c-sep-2022","html_content":"<p>ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy</p>","url":"https://vatpasealliance.org/dump-content/f/atp6v0c-sep-2022","title":"ATP6V0C (Apr 2023) - Case Report","summary":"ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy","date_modified":"2023-08-18T02:51:52Z"}]}