Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s disease

Autor: Sokhna Haissatou Diaw, Max Borsche, Linn Streubel-Gallasch, Marija Dulovic-Mahlow, Julia Hermes, Insa Lenz, Philip Seibler, Christine Klein, Norbert Brüggemann, Melissa Vos, Katja Lohmann

Publikováno v: npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-11 (2023)

Abstract Despite being a major component of Lewy bodies and Lewy neurites, pathogenic variants in the gene encoding alpha-Synuclein (α-Syn) are rare. To date, only four missense variants in the SNCA gene, encoding α-Syn have unequivocally been show

Externí odkaz: https://doaj.org/article/024219ee477647269aae6b3e97408c76

CRISPR-Cas9 treatment partially restores amyloid-β 42/40 in human fibroblasts with the Alzheimer’s disease PSEN1 M146L mutation

Autor: Evangelos Konstantinidis, Agnieszka Molisak, Florian Perrin, Linn Streubel-Gallasch, Sarah Fayad, Daniel Y. Kim, Karl Petri, Martin J. Aryee, Ximena Aguilar, Bence György, Vilmantas Giedraitis, J. Keith Joung, Vikram Pattanayak, Magnus Essand, Anna Erlandsson, Oksana Berezovska, Martin Ingelsson

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 28, Iss , Pp 450-461 (2022)

Presenilin 1 (PS1) is a central component of γ-secretase, an enzymatic complex involved in the generation of the amyloid-β (Aβ) peptide that deposits as plaques in the Alzheimer’s disease (AD) brain. The M146L mutation in the PS1 gene (PSEN1) le

Externí odkaz: https://doaj.org/article/503c1c5367834e719f03a069aa99c40b

Understanding the hydrologic impacts of wastewater treatment plant discharge to shallow groundwater: before and after plant shutdownElectronic supplementary information (ESI) available. See DOI: 10.1039/c6ew00128a

Autor: Hubbard, Laura E., Keefe, Steffanie H., Kolpin, Dana W., Barber, Larry B., Duris, Joseph W., HutchinsonPresent address: Environmental Consulting & Technology, Kasey J., Inc., 22, 332 S Linn St #, Cit, Iowa, Bradley, Paul M.

Publikováno v: Environmental Science: Water Research & Technology; 2016, Vol. 2 Issue: 5 p864-874, 11p

TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy.

Autor: Vinayakumar Siragam, Xuezhi Cui, Stephane Masse, Cameron Ackerley, Shabana Aafaqi, Linn Strandberg, Michael Tropak, Michael D Fridman, Kumaraswamy Nanthakumar, Jun Liu, Yu Sun, Bin Su, Caroline Wang, Xiaoru Liu, Yuqing Yan, Ariel Mendlowitz, Robert M Hamilton

Publikováno v: PLoS ONE, Vol 9, Iss 10, p e109128 (2014)

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of myocardium in the right ventricular free wall and frequently results in life-threatening ventricular arrhythmias and sudden car

Externí odkaz: https://doaj.org/article/81dc701f89c5477fb1ceeb469e49c9d7

Stereotypic behaviour predicts reproductive performance and litter sex ratio in giant pandas.

Autor: Martin MS; Institute for Conservation Research, San Diego Zoo Global, 15600 San Pasqual Valley Rd., Escondido, California, 92027, USA.; PDXWildlife, 9233 SW Brier Pl., Portland, OR, 97219, USA., Owen M; Institute for Conservation Research, San Diego Zoo Global, 15600 San Pasqual Valley Rd., Escondido, California, 92027, USA., Wintle NJP; H-Corp Construction, 1626 SE Linn St., Portland, OR, 97202, USA., Zhang G; China Conservation and Research Center for the Giant Panda, Wolong, Sichuan, 623006, P.R. China., Zhang H; China Conservation and Research Center for the Giant Panda, Wolong, Sichuan, 623006, P.R. China., Swaisgood RR; Institute for Conservation Research, San Diego Zoo Global, 15600 San Pasqual Valley Rd., Escondido, California, 92027, USA. RSwaisgood@sandiegozoo.org.

Publikováno v: Scientific reports [Sci Rep] 2020 Apr 29; Vol. 10 (1), pp. 7263. Date of Electronic Publication: 2020 Apr 29.