PubMed (cited) for id: 605268

Year	Number of Results
2000	2
2001	2
2002	2
2003	2
2006	1
2021	1
2024	0

1

Neuronal junctophilins recruit specific Ca_V and RyR isoforms to ER-PM junctions and functionally alter Ca_V2.1 and Ca_V2.2.

Perni S, Beam K. Perni S, et al. Elife. 2021 Mar 26;10:e64249. doi: 10.7554/eLife.64249. Elife. 2021. PMID: 33769283 Free PMC article.

2

Functional uncoupling between Ca2+ release and afterhyperpolarization in mutant hippocampal neurons lacking junctophilins.

Moriguchi S, Nishi M, Komazaki S, Sakagami H, Miyazaki T, Masumiya H, Saito SY, Watanabe M, Kondo H, Yawo H, Fukunaga K, Takeshima H. Moriguchi S, et al. Proc Natl Acad Sci U S A. 2006 Jul 11;103(28):10811-6. doi: 10.1073/pnas.0509863103. Epub 2006 Jun 29. Proc Natl Acad Sci U S A. 2006. PMID: 16809425 Free PMC article.

3

Coexpression of junctophilin type 3 and type 4 in brain.

Nishi M, Sakagami H, Komazaki S, Kondo H, Takeshima H. Nishi M, et al. Brain Res Mol Brain Res. 2003 Oct 21;118(1-2):102-10. doi: 10.1016/s0169-328x(03)00341-3. Brain Res Mol Brain Res. 2003. PMID: 14559359

4

Huntington's disease--like 2 can present as chorea-acanthocytosis.

Walker RH, Rasmussen A, Rudnicki D, Holmes SE, Alonso E, Matsuura T, Ashizawa T, Davidoff-Feldman B, Margolis RL. Walker RH, et al. Neurology. 2003 Oct 14;61(7):1002-4. doi: 10.1212/01.wnl.0000085866.68470.6d. Neurology. 2003. PMID: 14557581

5

Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.

Walker RH, Morgello S, Davidoff-Feldman B, Melnick A, Walsh MJ, Shashidharan P, Brin MF. Walker RH, et al. Neurology. 2002 Apr 9;58(7):1031-7. doi: 10.1212/wnl.58.7.1031. Neurology. 2002. PMID: 11940688

6

CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.

Stevanin G, Camuzat A, Holmes SE, Julien C, Sahloul R, Dodé C, Hahn-Barma V, Ross CA, Margolis RL, Durr A, Brice A. Stevanin G, et al. Neurology. 2002 Mar 26;58(6):965-7. doi: 10.1212/wnl.58.6.965. Neurology. 2002. PMID: 11914418

7

A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.

Margolis RL, O'Hearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML, Callahan C, Hwang HS, Troncoso JC, Ross CA. Margolis RL, et al. Ann Neurol. 2001 Dec;50(6):373-80. doi: 10.1002/ana.1312. Ann Neurol. 2001. PMID: 11761463

8

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL. Holmes SE, et al. Nat Genet. 2001 Dec;29(4):377-8. doi: 10.1038/ng760. Nat Genet. 2001. PMID: 11694876

9

Junctophilins: a novel family of junctional membrane complex proteins.

Takeshima H, Komazaki S, Nishi M, Iino M, Kangawa K. Takeshima H, et al. Mol Cell. 2000 Jul;6(1):11-22. doi: 10.1016/s1097-2765(00)00003-4. Mol Cell. 2000. PMID: 10949023 Free article.

10

Characterization of human junctophilin subtype genes.

Nishi M, Mizushima A, Nakagawara Ki, Takeshima H. Nishi M, et al. Biochem Biophys Res Commun. 2000 Jul 14;273(3):920-7. doi: 10.1006/bbrc.2000.3011. Biochem Biophys Res Commun. 2000. PMID: 10891348

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