PMC Links for Gene (Select 6709) - PMC

Links from Gene

Items: 1 to 20 of 186

<< First< Prev

Page of 10

Select item 111575981.

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype

Valerie Gartner, Thomas C. Markello, Ellen Macnamara, Andrea De Biase, Audrey Thurm, Lisa Joseph, Alan Beggs, Jeremy D. Schmahmann, Gerard T. Berry, Irina Anselm, Emma Boslet, Cynthia J. Tifft, William A. Gahl, Paul R. Lee

Am J Med Genet A. Author manuscript; available in PMC 2024 Jun 7.

Published in final edited form as: Am J Med Genet A. 2018 Dec; 176(12): 2768–2776. Published online 2018 Dec 11. doi: 10.1002/ajmg.a.40628

PMCID:: PMC11157598

Abstract Article PDF–849K

Select item 106209432.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, Genomics England Research Consortium

Genet Med. 2023 Jan; 25(1): 76–89. doi: 10.1016/j.gim.2022.09.013

PMCID:: PMC10620943

Abstract Article PDF–1.2M

Select item 92328833.

De novo and dominantly inherited SPTAN1 mutations cause Spastic Paraplegia and Cerebellar Ataxia

Liedewei Van de Vondel, Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau, Martje G. Pauly, Katrin Klein, Maren Rautenberg, Léna Guillot-Noël, Tine Deconinck, Atay Vural, Sibel Ertan, Okan Dogu, Hilmi Uysal, Vesna Brankovic, Rebecca Herzog, Alexis Brice, Alexandra Durr, Stephan Klebe, Friedrich Stock, Almut Turid Bischoff, Tim Rattay, María-Jesús Sobrido, Giovanna De Michele, Peter De Jonghe, Thomas Klopstock, Katja Lohmann, Ginevra Zanni, Filippo M. Santorelli, Vincent Timmerman, Tobias B. Haack, Stephan Züchner, PREPARE consortium, Rebecca Schüle, Giovanni Stevanin, Matthis Synofzik, A. Nazli Basak, Jonathan Baets

Mov Disord. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Mov Disord. 2022 Jun; 37(6): 1175–1186. Published online 2022 Feb 12. doi: 10.1002/mds.28959

PMCID:: PMC9232883

Abstract Article PDF–1.2M

Select item 81566734.

α-Fodrin in Cytoskeletal Organization and the Activity of Certain Key Microtubule Kinesins

Jamuna S. Sreeja, Athira Jyothy, Suparna Sengupta

Genes (Basel) 2021 May; 12(5): 750. Published online 2021 May 17. doi: 10.3390/genes12050750

PMCID:: PMC8156673

Abstract Article PDF–16M

Select item 67732255.

α-Fodrin is required for the organization of functional microtubules during mitosis

Rohith Kumar Nellikka, Jamuna S. Sreeja, Dhrishya Dharmapal, Rince John, Augusta Monteiro, Joana Catarina Macedo, Carlos Conde, Elsa Logarinho, Claudio E. Sunkel, Suparna Sengupta

Cell Cycle. 2019; 18(20): 2713–2726. Published online 2019 Aug 27. doi: 10.1080/15384101.2019.1656476

PMCID:: PMC6773225

Abstract Article PDF–5.3M

Select item 62484096.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini

Brain. 2017 Sep; 140(9): 2322–2336. Published online 2017 Aug 24. doi: 10.1093/brain/awx195

PMCID:: PMC6248409

Abstract Article PDF–741K

Select item 57317497.

αII-spectrin in T cells is involved in the regulation of cell-cell contact leading to immunological synapse formation?

Justyna M. Meissner, Aleksander F. Sikorski, Tomasz Nawara, Jakub Grzesiak, Krzysztof Marycz, Dżamila M. Bogusławska, Izabela Michalczyk, Marie-Christine Lecomte, Beata Machnicka

PLoS One. 2017; 12(12): e0189545. Published online 2017 Dec 15. doi: 10.1371/journal.pone.0189545

PMCID:: PMC5731749

Abstract Article PDF–11M

Select item 33762618.

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

Fadi F Hamdan, Hirotomo Saitsu, Kiyomi Nishiyama, Julie Gauthier, Sylvia Dobrzeniecka, Dan Spiegelman, Jean-Claude Lacaille, Jean-Claude Décarie, Naomichi Matsumoto, Guy A Rouleau, Jacques L Michaud

Eur J Hum Genet. 2012 Jul; 20(7): 796–800. Published online 2012 Jan 18. doi: 10.1038/ejhg.2011.271

PMCID:: PMC3376261

Abstract Article PDF–428K

Select item 30320589.

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, Kiyoshi Egawa, Keisuke Hamada, Ippei Okada, Takeshi Mizuguchi, Hitoshi Osaka, Rie Miyata, Tomonori Furukawa, Kazuhiro Haginoya, Hideki Hoshino, Tomohide Goto, Yasuo Hachiya, Takanori Yamagata, Shinji Saitoh, Toshiro Nagai, Kiyomi Nishiyama, Akira Nishimura, Noriko Miyake, Masayuki Komada, Kenji Hayashi, Syu-ichi Hirai, Kazuhiro Ogata, Mitsuhiro Kato, Atsuo Fukuda, Naomichi Matsumoto

Am J Hum Genet. 2010 Jun 11; 86(6): 881–891. doi: 10.1016/j.ajhg.2010.04.013

PMCID:: PMC3032058

Abstract Article PDF–1.5M

Select item 294290410.

αII-Spectrin Breakdown Products (SBDPs): Diagnosis and Outcome in Severe Traumatic Brain Injury Patients

Stefania Mondello, Steven A. Robicsek, Andrea Gabrielli, Gretchen M. Brophy, Linda Papa, Joseph Tepas, III, Claudia Robertson, Andras Buki, Dancia Scharf, Mo Jixiang, Linnet Akinyi, Uwe Muller, Kevin K.W. Wang, Ronald L. Hayes

J Neurotrauma. 2010 Jul; 27(7): 1203–1213. doi: 10.1089/neu.2010.1278

PMCID:: PMC2942904

Abstract Article PDF–405K

Select item 278547111.

The Immunogenic SigA Enterotoxin of Shigella flexneri 2a Binds to HEp-2 Cells and Induces Fodrin Redistribution in Intoxicated Epithelial Cells

Keith Al-Hasani, Fernando Navarro-Garcia, Jazmin Huerta, Harry Sakellaris, Ben Adler

PLoS One. 2009; 4(12): e8223. Published online 2009 Dec 9. doi: 10.1371/journal.pone.0008223

PMCID:: PMC2785471

Abstract Article PDF–733K

Select item 270301312.

Knockdown of αII spectrin in normal human cells by siRNA leads to chromosomal instability and decreased DNA interstrand cross-link repair

Laura W. McMahon, Pan Zhang, Deepa M. Sridharan, Joel A. Lefferts, Muriel W. Lambert

Biochem Biophys Res Commun. Author manuscript; available in PMC 2010 Apr 3.

Published in final edited form as: Biochem Biophys Res Commun. 2009 Apr 3; 381(2): 288–293. Published online 2009 Feb 13. doi: 10.1016/j.bbrc.2009.02.038

PMCID:: PMC2703013

Abstract Article PDF–432K

Select item 160366513.

Analysis of in Vivo Role of α-Fodrin Autoantigen in Primary Sjögren’s Syndrome

Katsushi Miyazaki, Noriaki Takeda, Naozumi Ishimaru, Fumie Omotehara, Rieko Arakaki, Yoshio Hayashi

Am J Pathol. 2005 Oct; 167(4): 1051–1059. doi: 10.1016/s0002-9440(10)61194-7

PMCID:: PMC1603665

Abstract Article PDF–1.0M

Select item 657946314.

Defining new mechanistic roles for αII spectrin in cardiac function

Ellen R. Lubbers, Nathaniel P. Murphy, Hassan Musa, Claire Yu-Mei Huang, Rohan Gupta, Morgan V. Price, Mei Han, Georges Daoud, Daniel Gratz, Mona El Refaey, Xianyao Xu, Nicole K. Hoeflinger, Emma L. Friel, Peter Lancione, Michael J. Wallace, Omer Cavus, Samantha L. Simmons, Jordan L. Williams, Michel Skaf, Sara N. Koenig, Paul M. L. Janssen, Matthew N. Rasband, Thomas J. Hund, Peter J. Mohler

J Biol Chem. 2019 Jun 14; 294(24): 9576–9591. Published online 2019 May 7. doi: 10.1074/jbc.RA119.007714

Correction in:: J Biol Chem. 2019 Oct 18; 294(42): 15557.

PMCID:: PMC6579463

Abstract Article PDF–5.7M

Select item 641112215.

Downregulation of SPTAN1 is related to MLH1 deficiency and metastasis in colorectal cancer

Anne Ackermann, Christopher Schrecker, Dimitra Bon, Nicolaus Friedrichs, Katrin Bankov, Peter Wild, Guido Plotz, Stefan Zeuzem, Eva Herrmann, Martin-Leo Hansmann, Angela Brieger

PLoS One. 2019; 14(3): e0213411. Published online 2019 Mar 11. doi: 10.1371/journal.pone.0213411

PMCID:: PMC6411122

Abstract Article PDF–4.8M

Select item 390440116.

Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1

Inga Hinrichsen, Benjamin Philipp Ernst, Franziska Nuber, Sandra Passmann, Dieter Schäfer, Verena Steinke, Nicolaus Friedrichs, Guido Plotz, Stefan Zeuzem, Angela Brieger

Mol Cancer. 2014; 13: 11. Published online 2014 Jan 24. doi: 10.1186/1476-4598-13-11

PMCID:: PMC3904401

Abstract Article PDF–1.4M

Select item 374522217.

Loss of TGF-β Adaptor β2SP Activates Notch Signaling and SOX9 Expression in Esophageal Adenocarcinoma

Shumei Song, Dipen M. Maru, Jaffer A. Ajani, Chia-Hsin Chan, Soichiro Honjo, Hui-Kuan Lin, Arlene Correa, Wayne L. Hofstetter, Marta Davila, John Stroehlein, Lopa Mishra

Cancer Res. Author manuscript; available in PMC 2013 Aug 16.

Published in final edited form as: Cancer Res. 2013 Apr 1; 73(7): 2159–2169. Published online 2013 Mar 27. doi: 10.1158/0008-5472.CAN-12-1962

PMCID:: PMC3745222

Abstract Article PDF–4.3M

Select item 325330818.

Serum Concentrations of Ubiquitin C-Terminal Hydrolase-L1 and αII-Spectrin Breakdown Product 145 kDa Correlate with Outcome after Pediatric TBI

Rachel P. Berger, Ronald L. Hayes, Rudolph Richichi, Sue R. Beers, Kevin K.W. Wang

J Neurotrauma. 2012 Jan 1; 29(1): 162–167. doi: 10.1089/neu.2011.1989

PMCID:: PMC3253308

Abstract Article PDF–159K

Select item 212002019.

Dynamic properties of ankyrin in T lymphocytes: colocalization with spectrin and protein kinase C beta

J Cell Biol. 1994 Apr 2; 125(2): 345–358. doi: 10.1083/jcb.125.2.345

PMCID:: PMC2120020

Summary PDF–5.3M

Select item 115107420.

Site specificity in the interactions of synapsin 1 with tubulin.

A F Bennett, N V Hayes, A J Baines

Biochem J. 1991 Jun 15; 276(Pt 3): 793–799. doi: 10.1042/bj2760793

PMCID:: PMC1151074

Summary Page Browse PDF–1.8M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 186

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity