Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Eva Janzen"'
Autor:
Melissa B. Walsh, Eva Janzen, Emily Wingrove, Seyyedmohsen Hosseinibarkooie, Natalia Rodriguez Muela, Lance Davidow, Maria Dimitriadi, Erika M. Norabuena, Lee L. Rubin, Brunhilde Wirth, Anne C. Hart
Publikováno v:
BMC Biology, Vol 18, Iss 1, Pp 1-19 (2020)
Abstract Background Understanding the genetic modifiers of neurodegenerative diseases can provide insight into the mechanisms underlying these disorders. Here, we examine the relationship between the motor neuron disease spinal muscular atrophy (SMA)
Externí odkaz:
https://doaj.org/article/d6f829f77b844f8aab92f9979c421e69
Autor:
Jannik M. Buettner, Josiane K. Sime Longang, Florian Gerstner, Katharina S. Apel, Beatriz Blanco-Redondo, Leonie Sowoidnich, Eva Janzen, Tobias Langenhan, Brunhilde Wirth, Christian M. Simon
Publikováno v:
iScience, Vol 24, Iss 11, Pp 103376- (2021)
Summary: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by reduced survival motor neuron (SMN) protein. Recently, SMN dysfunction has been linked to individual aspects of motor circuit pathology in a severe SMA mouse model. To de
Externí odkaz:
https://doaj.org/article/876d4240d23740fc9dadab41c2948ab4
Autor:
Eva Janzen, Lisa Wolff, Natalia Mendoza-Ferreira, Kristina Hupperich, Andrea Delle Vedove, Seyyedmohsen Hosseinibarkooie, Min Jeong Kye, Brunhilde Wirth
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
Many neurodegenerative disorders share common pathogenic pathways such as endocytic defects, Ca2+ misregulation and defects in actin dynamics. Factors acting on these shared pathways are highly interesting as a therapeutic target. Plastin 3 (PLS3), a
Externí odkaz:
https://doaj.org/article/65c3660dc28c4f03babf89ef4c4949db
Autor:
Brunhilde Wirth, Katharina S. Apel, Leonie Sowoidnich, Beatriz Blanco-Redondo, Josiane K. Sime Longang, Florian Gerstner, Jannik M. Buettner, Eva Janzen, Tobias Langenhan, Christian M. Simon
Publikováno v:
iScience
iScience, Vol 24, Iss 11, Pp 103376-(2021)
iScience, Vol 24, Iss 11, Pp 103376-(2021)
Summary Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by reduced survival motor neuron (SMN) protein. Recently, SMN dysfunction has been linked to individual aspects of motor circuit pathology in a severe SMA mouse model. To det
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce11175ae8eb6ef0b37d70ced4b8fc92
http://europepmc.org/articles/PMC8605199
http://europepmc.org/articles/PMC8605199
Autor:
Maria Dimitriadi, Anne C. Hart, Melissa B. Walsh, Natalia Rodriguez Muela, Erika M. Norabuena, Seyyedmohsen Hosseinibarkooie, Eva Janzen, Brunhilde Wirth, Emily Wingrove, Lee L. Rubin, Lance S. Davidow
Publikováno v:
BMC Biology
BMC Biology, Vol 18, Iss 1, Pp 1-19 (2020)
BMC Biology, Vol 18, Iss 1, Pp 1-19 (2020)
Background Understanding the genetic modifiers of neurodegenerative diseases can provide insight into the mechanisms underlying these disorders. Here, we examine the relationship between the motor neuron disease spinal muscular atrophy (SMA), which i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ac0e4bf1b1a466bb2fdb09b325c77ba
https://pubmed.ncbi.nlm.nih.gov/32938453
https://pubmed.ncbi.nlm.nih.gov/32938453
Autor:
Seyyedmohsen Hosseinibarkooie, Markus Riessland, Laura Torres-Benito, Natalia Mendoza-Ferreira, Eva Janzen, Svenja Schneider, Frank Rigo, Kristina Hupperich, Min Jeong Kye, Vanessa Grysko, Matthias Hammerschmidt, Brunhilde Wirth, Theresa Tschanz, C. Frank Bennett
Publikováno v:
Brain
Plastin3 is a protective modifier of spinal muscular atrophy (SMA). Janzen et al. report that CHP1 interacts directly with plastin3, and that CHP1 suppression reduces SMA pathology in cellular and animal models by restoring impaired endocytosis. CHP1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1728b8f988d42bd4b09fbaee70a6664
https://pubmed.ncbi.nlm.nih.gov/29961886
https://pubmed.ncbi.nlm.nih.gov/29961886
Autor:
C. Frank Bennett, Andrea Hoffmann, Anna Kaczmarek, Markus Riessland, Seyyedmohsen Hosseinibarkooie, Miriam Peters, Ansgar Büschges, Min Jeong Kye, Frank Rigo, Christoph Guschlbauer, Eva Janzen, Tobias Lamkemeyer, Laura Torres-Benito, Raphael H. Rastetter, Natalia Mendoza-Ferreira, Christoph S. Clemen, Matthias Hammerschmidt, Kristina Hupperich, Brunhilde Wirth, Janine Milbradt
Homozygous loss of SMN1 causes spinal muscular atrophy (SMA), the most common and devastating childhood genetic motor-neuron disease. The copy gene SMN2 produces only ∼10% functional SMN protein, insufficient to counteract development of SMA. In co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e300456b6e182518780584026a3bdbdf
https://europepmc.org/articles/PMC5011078/
https://europepmc.org/articles/PMC5011078/
Autor:
M Sajid Hussain, Eva Janzen, Peter Nürnberg, Angelika A. Noegel, Shahid Mahmood Baig, Hans Eiberg, Iram Anjum, M Reza Toliat, Muhammad Farooq, S Marriam Bakhtiar, Klaus W. Kjaer, Lars Hansen, Niels Tommerup
Publikováno v:
Clinical Genetics. 83:446-451
Autosomal recessive primary microcephaly (MCPH) is caused by mutations in at least eight different genes involved either in cell division or DNA repair. Most mutations are identified in consanguine families from Pakistan, Iran and India. To further a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ade262c7d78f076ccab83349f0e16f6b
https://doi.org/10.1111/j.1399-0004.2012.01932.x
https://doi.org/10.1111/j.1399-0004.2012.01932.x
Autor:
Svenja Schneider, Eva Janzen, Natalia Mendoza-Ferreira, Janine Milbradt, Matthias Hammerschmidt, Mert Karakaya, Marie Coutelier, Alexis Brice, Brunhilde Wirth, Stephan Züchner, Alexandra Durr, Andrew B. Singleton, Christian Pichlo, Seyyedmohsen Hosseinibarkooie, Giovanni Stevanin, Markus Riessland, Heiko Löhr, Laura Torres-Benito
Publikováno v:
Neurology: Genetics
Objective:To ascertain the genetic and functional basis of complex autosomal recessive cerebellar ataxia (ARCA) presented by 2 siblings of a consanguineous family characterized by motor neuropathy, cerebellar atrophy, spastic paraparesis, intellectua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98afa88732750b218c53530640778e96
https://doi.org/10.1212/nxg.0000000000000209
https://doi.org/10.1212/nxg.0000000000000209
Publikováno v:
Medizinische Genetik. Jun2018, Vol. 30 Issue 2, p293-301. 9p.