Joerg Striessnig - Selected Publications#

1: Striessnig J, Murphy BJ, Catterall WA. (1991) Dihydropyridine receptor of L-type calcium channels: identification of binding domains for [3H]](+)-PN200-110 and [3H]]azidopine within the alpha-1 subunit. Proc Natl Acad Sci USA. 88:10769-10773. PMID: 1660150; PMCID: PMC53012.

2: Kraus RL, Sinnegger MJ, Glossmann H, Hering S, Striessnig J. (1998) Familial hemiplegic migraine mutations change alpha1A calcium channel kinetics. J Biol Chem. 273:5586-5590. PMID: 9488686.

3: Platzer J, Engel J, Schrott-Fischer A, Stephan K, Bova S, Chen H, Zheng H, Striessnig J. (2000) Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type calcium channels. Cell 102:89-97. PMID:10929716.

4: Sinnegger-Brauns MJ, Hetzenauer A, Huber IG, Renström E, Wietzorrek G, Berjukov S, Cavalli M, Walter D, Koschak A, Waldschütz R, Hering S, Bova S, Rorsman P, Pongs O, Singewald N, Striessnig J. (2004) Isoform-specific regulation of mood behavior and pancreatic beta cell and cardiovascular function by L-type calcium channels. J Clin Invest. 113:1430-9. PMID: 15146240; PMCID: PMC406526.

5: Hoda JC, Zaghetto F, Koschak A, Striessnig J. (2005) Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Cav1.4 L-type calcium channels. J Neurosci. 25:252-259. PMID: 15634789.

6: Singh A, Hamedinger D, Hoda JC, Gebhart M, Koschak A, Romanin C, Striessnig J. (2006) C-terminal modulator controls calcium-dependent gating of Cav1.4 L-type calcium channels. Nat Neurosci. 9:1108-16. PMID:16921373.

7: Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nurnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, Nurnberg P, Striessnig J, Bolz HJ (2011) Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci 14:77-84. PMID: 21131953

8: Azizan EA, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S, Bochukova EG, Zhao W, Shaikh LH, Brighton CA, Teo AE, Davenport AP, Dekkers T, Tops B, Kusters B, Ceral J, Yeo GS, Neogi SG, McFarlane I, Rosenfeld N, Marass F, Hadfield J, Margas W, Chaggar K, Solar M, Deinum J, Dolphin AC, Farooqi IS, Striessnig J, Nissen P, Brown MJ (2013) Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nat Genet 45: 1055-1060. PMID 23913004

9: Pinggera A, Lieb A, Benedetti B, Lampert M, Monteleone S, Liedl KR, Tuluc P, Striessnig J. (2015) CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels. Biol Psychiatry. 77:816-822.PMID: 25620733; PMCID: PMC4401440.

10: Pinggera A, Mackenroth L, Rump A, Schallner J, Beleggia F, Wollnik B, Striessnig J. (2017) New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy. Hum Mol Genet. 26:2923-2932. PMID: 28472301; PMCID: PMC5886262.