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Roles and functions of Atp6ap2 in the brain.
Bracke A, von Bohlen Und Halbach O. Bracke A, et al. Neural Regen Res. 2018 Dec;13(12):2038-2043. doi: 10.4103/1673-5374.241428. Neural Regen Res. 2018. PMID: 30323117 Free PMC article. Review.
Since nearly all members of the classical RAS have also been identified within the brain in the last decades and due to the existence of the blood-brain barrier, a RAS within the brain (bRAS) that is largely independent from the peripheral RAS has been postul …
Since nearly all members of the classical RAS have also been identified within the brain in the last decades and due to the existence …
Functions of the (pro)renin receptor (Atp6ap2) at molecular and system levels: pathological implications in hypertension, renal and brain development, inflammation, and fibrosis.
Hoffmann N, Peters J. Hoffmann N, et al. Pharmacol Res. 2021 Nov;173:105922. doi: 10.1016/j.phrs.2021.105922. Epub 2021 Oct 2. Pharmacol Res. 2021. PMID: 34607004 Free article. Review.
The (pro)renin receptor [(P)RR, Atp6ap2] was initially discovered as a membrane-bound binding partner of prorenin and renin. ...In the kidney, (P)RR plays an important role in renal dysfunction by activating proinflammatory and profibrotic molecules. In the brain, ( …
The (pro)renin receptor [(P)RR, Atp6ap2] was initially discovered as a membrane-bound binding partner of prorenin and renin. ...In th …
ATP6AP2 over-expression causes morphological alterations in the hippocampus and in hippocampus-related behaviour.
Bracke A, Schäfer S, von Bohlen Und Halbach V, Klempin F, Bente K, Bracke K, Staar D, van den Brandt J, Harzsch S, Bader M, Wenzel UO, Peters J, von Bohlen Und Halbach O. Bracke A, et al. Brain Struct Funct. 2018 Jun;223(5):2287-2302. doi: 10.1007/s00429-018-1633-1. Epub 2018 Feb 23. Brain Struct Funct. 2018. PMID: 29473106
ATP6AP2 plays a role in early brain development, adult hippocampal neurogenesis and in cognitive functions. ...However, little is known about the effects of over-expression of ATP6AP2 in the adult brain. We hypothesized that mice over-expressing ATP …
ATP6AP2 plays a role in early brain development, adult hippocampal neurogenesis and in cognitive functions. ...However, little …
Endothelial cell polarity and extracellular matrix composition require functional ATP6AP2 during developmental and pathological angiogenesis.
Patel NR, K C R, Blanks A, Li Y, Prieto MC, Meadows SM. Patel NR, et al. JCI Insight. 2022 Oct 10;7(19):e154379. doi: 10.1172/jci.insight.154379. JCI Insight. 2022. PMID: 35998033 Free PMC article.
However, the exact role of ATP6AP2 during blood vessel development remains largely undefined. Here, we use an inducible endothelial cell-specific (EC-specific) Atp6ap2-KO mouse model to investigate the role of ATP6AP2 during both physiological and pathologica …
However, the exact role of ATP6AP2 during blood vessel development remains largely undefined. Here, we use an inducible endothelial c …
Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.
Filipello F, You SF, Mirfakhar FS, Mahali S, Bollman B, Acquarone M, Korvatska O, Marsh JA, Sivaraman A, Martinez R, Cantoni C, De Feo L, Ghezzi L, Minaya MA, Renganathan A, Cashikar AG, Satoh JI, Beatty W, Iyer AK, Cella M, Raskind WH, Piccio L, Karch CM. Filipello F, et al. Acta Neuropathol. 2023 Jun;145(6):749-772. doi: 10.1007/s00401-023-02568-y. Epub 2023 Apr 28. Acta Neuropathol. 2023. PMID: 37115208 Free PMC article.
TREM2 is an innate immune receptor expressed by microglia in the adult brain. Genetic variation in the TREM2 gene has been implicated in risk for Alzheimer's disease and frontotemporal dementia, while homozygous TREM2 mutations cause a rare leukodystrophy, Nasu-Hakola dise …
TREM2 is an innate immune receptor expressed by microglia in the adult brain. Genetic variation in the TREM2 gene has been implicated …
Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration.
Dubos A, Castells-Nobau A, Meziane H, Oortveld MA, Houbaert X, Iacono G, Martin C, Mittelhaeuser C, Lalanne V, Kramer JM, Bhukel A, Quentin C, Slabbert J, Verstreken P, Sigrist SJ, Messaddeq N, Birling MC, Selloum M, Stunnenberg HG, Humeau Y, Schenck A, Herault Y. Dubos A, et al. Hum Mol Genet. 2015 Dec 1;24(23):6736-55. doi: 10.1093/hmg/ddv380. Epub 2015 Sep 16. Hum Mol Genet. 2015. PMID: 26376863 Free PMC article.
In mouse, conditional Atp6ap2 deletion in glutamatergic neurons (Atp6ap2(Camk2aCre/0) mice) caused increased spontaneous locomotor activity and altered fear memory. Both Drosophila ATP6AP2 knockdown and Atp6ap2(Camk2aCre/0) mice presented with presynap …
In mouse, conditional Atp6ap2 deletion in glutamatergic neurons (Atp6ap2(Camk2aCre/0) mice) caused increased spontaneous locom …
Synonymous variants in the ATP6AP2 gene may lead to developmental and epileptic encephalopathy.
Liang Y, Wan L, Yan H, Liu X, Zhang J, Zhu G, Yang G. Liang Y, et al. Front Neurol. 2024 Jan 11;14:1320514. doi: 10.3389/fneur.2023.1320514. eCollection 2023. Front Neurol. 2024. PMID: 38274877 Free PMC article.
A review of previously reported ATP6AP2-related DEE patients found that synonymous variants in the ATP6AP2 gene can cause early DEE onset, progressive changes in early-life MRI, and exon skipping in all ATP6AP2-related DEE patients. ...Due to increased isofor …
A review of previously reported ATP6AP2-related DEE patients found that synonymous variants in the ATP6AP2 gene can cause earl …
The (pro)renin receptor in health and disease.
Ichihara A, Yatabe MS. Ichihara A, et al. Nat Rev Nephrol. 2019 Nov;15(11):693-712. doi: 10.1038/s41581-019-0160-5. Nat Rev Nephrol. 2019. PMID: 31164719 Review.
Subsequent studies found that the (P)RR is widely distributed in organs throughout the body, including the kidneys, heart, brain, eyes, placenta and the immune system, and has multifaceted functions in vivo. ...
Subsequent studies found that the (P)RR is widely distributed in organs throughout the body, including the kidneys, heart, brain, eye …
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.
Hirose T, Cabrera-Socorro A, Chitayat D, Lemonnier T, Féraud O, Cifuentes-Diaz C, Gervasi N, Mombereau C, Ghosh T, Stoica L, Bacha JDA, Yamada H, Lauterbach MA, Guillon M, Kaneko K, Norris JW, Siriwardena K, Blasér S, Teillon J, Mendoza-Londono R, Russeau M, Hadoux J, Ito S, Corvol P, Matheus MG, Holden KR, Takei K, Emiliani V, Bennaceur-Griscelli A, Schwartz CE, Nguyen G, Groszer M. Hirose T, et al. J Clin Invest. 2019 Apr 15;129(5):2145-2162. doi: 10.1172/JCI79990. eCollection 2019 Apr 15. J Clin Invest. 2019. PMID: 30985297 Free PMC article.
Vacuolar H+-ATPase-dependent (V-ATPase-dependent) functions are critical for neural proteostasis and are involved in neurodegeneration and brain tumorigenesis. We identified a patient with fulminant neurodegeneration of the developing brain carrying a de novo splice …
Vacuolar H+-ATPase-dependent (V-ATPase-dependent) functions are critical for neural proteostasis and are involved in neurodegeneration and …
Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.
Edelman WC, Kiianitsa K, Virmani T, Martinez RA, Young JE, Keene CD, Bird TD, Raskind WH, Korvatska O. Edelman WC, et al. Parkinsonism Relat Disord. 2022 Aug;101:31-38. doi: 10.1016/j.parkreldis.2022.06.015. Epub 2022 Jun 24. Parkinsonism Relat Disord. 2022. PMID: 35779466 Free PMC article.
Analysis of blood transcriptomes of c.168+6T>A carriers identified potential biomarkers of ATP6AP2 deficiency in non-neural tissues. The c.345C>T variant increased exon 4 skipping with concomitant decrease of full length ATP6AP2 in brains of carriers. . …
Analysis of blood transcriptomes of c.168+6T>A carriers identified potential biomarkers of ATP6AP2 deficiency in non-neural tissue …
47 results