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pro vyhledávání: '"Velayos‐Baeza, A"'
Akademický článek
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Autor:
Derek Spieler, Antonio Velayos‐Baeza, Alžbeta Mühlbäck, Florian Castrop, Christian Maegerlein, Julia Slotta‐Huspenina, Benedikt Bader, Bernhard Haslinger, Adrian Danek
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Chorea‐acanthocytosis (ChAc; OMIM #200150) is a rare autosomal recessive condition with onset in early adulthood that is caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene encoding chorein. Several diagnostic
Externí odkaz:
https://doaj.org/article/87d6d31fc1f649f3ae452680d792cfdc
Autor:
Wondwossen M Yeshaw, Marianne van der Zwaag, Francesco Pinto, Liza L Lahaye, Anita IE Faber, Rubén Gómez-Sánchez, Amalia M Dolga, Conor Poland, Anthony P Monaco, Sven CD van IJzendoorn, Nicola A Grzeschik, Antonio Velayos-Baeza, Ody CM Sibon
Publikováno v:
eLife, Vol 8 (2019)
The VPS13A gene is associated with the neurodegenerative disorder Chorea Acanthocytosis. It is unknown what the consequences are of impaired function of VPS13A at the subcellular level. We demonstrate that VPS13A is a peripheral membrane protein, ass
Externí odkaz:
https://doaj.org/article/82c95e0d7eb64c9cabeaa87ffdcdcbf4
Autor:
Ditzel, Ricky M., Walker, Ruth H., Nirenberg, Melissa J., Tetlow, Amber M., Farrell, Kurt, Lind‐Watson, Kourtni J., Thorn, Emma L., Dangoor, Diana K., Gordon, Ronald, De Sanctis, Claudia, Barton, Brandon, Karp, Barbara I., Kirby, Alana, Lett, Debra J., Mente, Karin, Simon, David K., Velayos‐Baeza, Antonio, Miltenberger‐Miltenyi, Gabriel, Humphrey, Jack, Crary, John F.
Publikováno v:
Movement Disorders; Dec2023, Vol. 38 Issue 12, p2163-2172, 10p
Autor:
Spieler, Derek1,2,3 (AUTHOR) derek.spieler@uniklinik-freiburg.de, Velayos‐Baeza, Antonio4 (AUTHOR), Mühlbäck, Alžbeta5,6 (AUTHOR), Castrop, Florian3 (AUTHOR), Maegerlein, Christian7 (AUTHOR), Slotta‐Huspenina, Julia8 (AUTHOR), Bader, Benedikt9 (AUTHOR), Haslinger, Bernhard3 (AUTHOR), Danek, Adrian9 (AUTHOR) adrian.danek@med.uni-muenchen.de
Publikováno v:
Molecular Genetics & Genomic Medicine. Sep2020, Vol. 8 Issue 9, p1-10. 10p.
Autor:
Samuel S. Pappas, Juan Bonifacino, Adrian Danek, William T. Dauer, Mithu De, Lucia De Franceschi, Gilbert DiPaolo, Robert Fuller, Volker Haucke, Andreas Hermann, Benoit Kornmann, Bernhard Landwehrmeyer, Johannes Levin, Aaron M. Neiman, Dobrila D. Rudnicki, Ody Sibon, Antonio Velayos-Baeza, Jan J. Vonk, Ruth H. Walker, Lois S. Weisman, Roger L. Albin
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 7 (2017)
Chorea-Acanthocytosis (ChAc) is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive neurodegeneration. Little is understood of the pathogenesis of ChAc and related disorders (collecti
Externí odkaz:
https://doaj.org/article/a53376afb1d64e0ca424ee28d941ea19
Autor:
Jan J Vonk, Wondwossen M Yeshaw, Francesco Pinto, Anita I E Faber, Liza L Lahaye, Bart Kanon, Marianne van der Zwaag, Antonio Velayos-Baeza, Raimundo Freire, Sven C van IJzendoorn, Nicola A Grzeschik, Ody C M Sibon
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0170106 (2017)
Chorea-Acanthocytosis is a rare, neurodegenerative disorder characterized by progressive loss of locomotor and cognitive function. It is caused by loss of function mutations in the Vacuolar Protein Sorting 13A (VPS13A) gene, which is conserved from y
Externí odkaz:
https://doaj.org/article/5fc263d2c7534130bc21e94d7fab48dd
Autor:
Peter A. Perrino, Renee Y. Chasse, Anthony P. Monaco, Zoltán Molnár, Antonio Velayos‐Baeza, R. Holly Fitch
Publikováno v:
Genes, Brain and Behavior. 21
Developmental dyslexia is a common neurodevelopmental disorder characterized by difficulties in reading and writing. Although underlying biological and genetic mechanisms remain unclear, anomalies in phonological processing and auditory processing ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65460adcafef1dc2a48dc56bbf2e7fc2
https://doi.org/10.1111/gbb.12808
https://doi.org/10.1111/gbb.12808
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0153534 (2016)
Galectin-12, a member of the galectin family of β-galactoside-binding animal lectins, is preferentially expressed in adipocytes and required for adipocyte differentiation in vitro. This protein was recently found to regulate lipolysis, whole body ad
Externí odkaz:
https://doaj.org/article/e5b859b97bbf40f38b6633ef0bfb06e2