Age-dependent ataxia and neurodegeneration caused by an αII spectrin mutation with impaired regulation of its calpain sensitivity

Autor: Arkadiusz Miazek, Michał Zalas, Joanna Skrzymowska, Bryan A. Bogin, Krzysztof Grzymajło, Tomasz M. Goszczynski, Zachary A. Levine, Jon S. Morrow, Michael C. Stankewich

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-18 (2021)

Abstract The neuronal membrane-associated periodic spectrin skeleton (MPS) contributes to neuronal development, remodeling, and organization. Post-translational modifications impinge on spectrin, the major component of the MPS, but their role remains

Externí odkaz: https://doaj.org/article/40927af2976845f3a475e0d8a41ea927

Age-dependent ataxia and neurodegeneration caused by an αII spectrin mutation with impaired regulation of its calpain sensitivity

Autor: Krzysztof Grzymajło, Zachary A. Levine, Jon S. Morrow, Michael C. Stankewich, Bryan A. Bogin, Joanna Skrzymowska, Arkadiusz Miazek, Michał Zalas, Tomasz M. Goszczyński

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-18 (2021)
Scientific Reports

The neuronal membrane-associated periodic spectrin skeleton (MPS) contributes to neuronal development, remodeling, and organization. Post-translational modifications impinge on spectrin, the major component of the MPS, but their role remains poorly u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61a61cd19de7d1d4646d47585e366c69
https://doaj.org/article/40927af2976845f3a475e0d8a41ea927

Isoforms of Spectrin and Ankyrin Reflect the Functional Topography of the Mouse Kidney.

Autor: Michael C Stankewich, Gilbert W Moeckel, Lan Ji, Thomas Ardito, Jon S Morrow

Publikováno v: PLoS ONE, Vol 11, Iss 1, p e0142687 (2016)

The kidney displays specialized regions devoted to filtration, selective reabsorption, and electrolyte and metabolite trafficking. The polarized membrane pumps, channels, and transporters responsible for these functions have been exhaustively studied

Externí odkaz: https://doaj.org/article/3e8af5d7324b4de7af587ef1551070be

The Spread of Spectrin in Ataxia and Neurodegenerative Disease

Autor: Jon S, Morrow, Michael C, Stankewich

Publikováno v: Journal of experimental neurology

Experimental and hereditary defects in the ubiquitous scaffolding proteins of the spectrin gene family cause an array of neuropathologies. Most recognized are ataxias caused by missense, deletions, or truncations in the SPTBN2 gene that encodes beta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::818596acb568856c8d7a508bb74d0ef8
https://pubmed.ncbi.nlm.nih.gov/34528024

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Autor: Jessica Becker, Julia Bay, Deepa Ajit, Sheryl S. Moy, Katja Kloth, Michael T. Zimmermann, Pilar Cacheiro, Ingrid M.B.H. van de Laar, Richard H. van Jaarsveld, Queenie K-G Tan, Adriana S. Beltran, Allyn McConkie-Rosell, Keith A. Breau, Laura Schultz-Rogers, Deike Weiss, Damaris N Lorenzo, Marie T. McDonald, Robert Jech, Paul R. Mark, Erin Torti, Richard E. Person, Benjamin Cogné, Renske Oegema, Eva H. Brilstra, Robert Stratton, Koen L.I. van Gassen, Reginald James Edwards, Rebecca C. Spillmann, Michael C. Stankewich, Amy Kritzer, Liset Falcon Rodriguez, Parul Jayakar, Joseph T. Shieh, Margot A. Cousin, Elizabeth A. Normand, Jennifer L. Kemppainen, Jennifer MacKenzie, Hartmut Engels, Marjon van Slegtenhorst, Evangeline Kurtz-Nelson, Tianyun Wang, Yue Si, Damian Smedley, Bertrand Isidor, Blake A Creighton, Vimla Aggarwal, Michael Zech, Alvaro A. Beltran, Stefan Aretz, Brenda Temple, Simone Afriyie, Sarah E McKeown, Louise Bier, Tatjana Bierhals, Grace Yoon, Juliane Winkelmann, Swarnendu Tripathi, Brendan C. Lanpher, Amy Blevins, Pavel N. Pichurin, Eric W. Klee, Kathryn M. Harper, Cecilia Fairley, Lauren Gunderson, Ingo Helbig, Sruthi Dontu, Kirsten Cremer, Raphael Bernier, Helen V. Firth, Gretchen Parsons, Lorena J. Munoz, Evan E. Eichler, Alison S May, Grazia M.S. Mancini

Publikováno v: Nature Genetics, 53(7), 1006-1021. Nature Publishing Group
Nature genetics
Nat. Genet. 53, 1006-1021 (2021)

SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4874221589b63cb383656f262aebe07d
https://pure.eur.nl/en/publications/2512cc47-cfda-403d-a937-3ee0a59e175a