PubMed (cited) for id: 605870

Year	Number of Results
1999	2
2008	1
2010	1
2012	1
2013	1
2019	2
2020	1
2021	1
2022	1
2024	0

1

Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.

Narishige Y, Yaoita H, Shibuya M, Ikeda M, Kodama K, Kawashima A, Okubo Y, Endo W, Inui T, Togashi N, Tanaka S, Kobayashi Y, Onuma A, Takayama J, Tamiya G, Kikuchi A, Kure S, Haginoya K. Narishige Y, et al. Tohoku J Exp Med. 2022 Apr 29;256(4):321-326. doi: 10.1620/tjem.2022.J010. Epub 2022 Mar 24. Tohoku J Exp Med. 2022. PMID: 35321980 Free article.

2

Congenital ataxia due to novel variant in ATP8A2.

Damásio J, Santos D, Morais S, Brás J, Guerreiro R, Sardoeira A, Cavaco S, Carrilho I, Barbot C, Barros J, Sequeiros J. Damásio J, et al. Clin Genet. 2021 Jul;100(1):79-83. doi: 10.1111/cge.13954. Epub 2021 Apr 22. Clin Genet. 2021. PMID: 33682124

3

A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.

Mohamadian M, Ghandil P, Naseri M, Bahrami A, Momen AA. Mohamadian M, et al. J Clin Lab Anal. 2020 Nov;34(11):e23484. doi: 10.1002/jcla.23484. Epub 2020 Jul 17. J Clin Lab Anal. 2020. PMID: 33079427 Free PMC article.

4

Phosphatidylserine flipping by the P4-ATPase ATP8A2 is electrogenic.

Tadini-Buoninsegni F, Mikkelsen SA, Mogensen LS, Molday RS, Andersen JP. Tadini-Buoninsegni F, et al. Proc Natl Acad Sci U S A. 2019 Aug 13;116(33):16332-16337. doi: 10.1073/pnas.1910211116. Epub 2019 Aug 1. Proc Natl Acad Sci U S A. 2019. PMID: 31371510 Free PMC article.

5

Asparagine 905 of the mammalian phospholipid flippase ATP8A2 is essential for lipid substrate-induced activation of ATP8A2 dephosphorylation.

Mikkelsen SA, Mogensen LS, Vilsen B, Molday RS, Vestergaard AL, Andersen JP. Mikkelsen SA, et al. J Biol Chem. 2019 Apr 12;294(15):5970-5979. doi: 10.1074/jbc.RA118.007240. Epub 2019 Feb 13. J Biol Chem. 2019. PMID: 30760526 Free PMC article.

6

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

Onat OE, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T. Onat OE, et al. Eur J Hum Genet. 2013 Mar;21(3):281-5. doi: 10.1038/ejhg.2012.170. Epub 2012 Aug 15. Eur J Hum Genet. 2013. PMID: 22892528 Free PMC article.

7

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.

Cacciagli P, Haddad MR, Mignon-Ravix C, El-Waly B, Moncla A, Missirian C, Chabrol B, Villard L. Cacciagli P, et al. Eur J Hum Genet. 2010 Dec;18(12):1360-3. doi: 10.1038/ejhg.2010.126. Epub 2010 Aug 4. Eur J Hum Genet. 2010. PMID: 20683487 Free PMC article.

8

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.

Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U. Ozcelik T, et al. Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4232-6. doi: 10.1073/pnas.0710010105. Epub 2008 Mar 7. Proc Natl Acad Sci U S A. 2008. PMID: 18326629 Free PMC article.

9

Differential expression of putative transbilayer amphipath transporters.

Halleck MS, Lawler JF JR, Blackshaw S, Gao L, Nagarajan P, Hacker C, Pyle S, Newman JT, Nakanishi Y, Ando H, Weinstock D, Williamson P, Schlegel RA. Halleck MS, et al. Physiol Genomics. 1999 Nov 11;1(3):139-50. doi: 10.1152/physiolgenomics.1999.1.3.139. Physiol Genomics. 1999. PMID: 11015572

10

Changes in levels of normal ML-1 gene transcripts associated with the conversion of human nontumorigenic to tumorigenic phenotypes.

Sun XL, Li D, Fang J, Noyes I, Casto B, Theil K, Shuler C, Milo GE. Sun XL, et al. Gene Expr. 1999;8(2):129-39. Gene Expr. 1999. PMID: 10551800 Free PMC article.

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