Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.6.1.3 (ATPase)
 65,361 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autoimmune disease and/or autoantibodies have been reported in mood disorder patients. We screened for autoantibodies to glutamic acid decarboxylase (GAD65), thyroid peroxidase (TPO), gastric H+/K+ ATPase (ATP4B), and Ro52 in a psychiatric patient cohort. A 24-year-old woman with major depressive disorder (MDD) with reduced psychomotor activity was identified with unusually high serum GAD65 and Ro52 autoantibody titers. Anti-GAD65 and anti-Ro52 autoantibodies were also elevated in the CSF from this patient. Longitudinal examination revealed a four-fold increase in anti-GAD65 serum antibody titers which correlated with exacerbation of psychomotor symptomatology. These results suggest the possibility that CNS autoimmunity may be responsible for the psychomotor impairment in this MDD patient.
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PMID:High levels of Anti-GAD65 and Anti-Ro52 autoantibodies in a patient with major depressive disorder showing psychomotor disturbance. 2022 14

The biogenesis of the multi-subunit vacuolar-type H+-ATPase (V-ATPase) is initiated in the endoplasmic reticulum with the assembly of the proton pore V0, which is controlled by a group of assembly factors. Here, we identify two hemizygous missense mutations in the extracellular domain of the accessory V-ATPase subunit ATP6AP2 (also known as the [pro]renin receptor) responsible for a glycosylation disorder with liver disease, immunodeficiency, cutis laxa, and psychomotor impairment. We show that ATP6AP2 deficiency in the mouse liver caused hypoglycosylation of serum proteins and autophagy defects. The introduction of one of the missense mutations into Drosophila led to reduced survival and altered lipid metabolism. We further demonstrate that in the liver-like fat body, the autophagic dysregulation was associated with defects in lysosomal acidification and mammalian target of rapamycin (mTOR) signaling. Finally, both ATP6AP2 mutations impaired protein stability and the interaction with ATP6AP1, a member of the V0 assembly complex. Collectively, our data suggest that the missense mutations in ATP6AP2 lead to impaired V-ATPase assembly and subsequent defects in glycosylation and autophagy.
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PMID:Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. 2938 87