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Select item 109236381.

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

Andres Nascimento, Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A. Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A. Stafki, Lynn S. Pais, Vijay S. Ganesh, Anne O’Donnell-Luria, Safoora B. Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G.W. Lidov, Andrew L. Mammen, Josep M Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S Ghosh, Basil T. Darras, Cristina Jou, Louis M. Kunkel, Janet Hoenicka, Carsten G. Bönnemann, Peter B. Kang, Daniel Natera-de Benito

Acta Neuropathol. Author manuscript; available in PMC 2024 Apr 1.

Published in final edited form as: Acta Neuropathol. 2023 Apr; 145(4): 479–496. Published online 2023 Feb 17. doi: 10.1007/s00401-023-02551-7

PMCID:: PMC10923638

Article PDF–2.4M

Select item 88328622.

Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation

Mahshid Malakootian, Masoumeh Jalilian, Samira Kalayinia, Maryam Hosseini Moghadam, Mona Heidarali, Majid Haghjoo

BMC Cardiovasc Disord. 2022; 22: 37. Published online 2022 Feb 11. doi: 10.1186/s12872-022-02485-0

PMCID:: PMC8832862

Article PDF–2.2M

Select item 27966483.

Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat

Sabrina V Böhm, Panayiotis Constantinou, Sipin Tan, Hong Jin, Roland G Roberts

BMC Biol. 2009; 7: 85. Published online 2009 Dec 4. doi: 10.1186/1741-7007-7-85

PMCID:: PMC2796648

Article PDF–1.2M

Select item 21734064.

Laminin-1 redistributes postsynaptic proteins and requires rapsyn, tyrosine phosphorylation, and Src and Fyn to stably cluster acetylcholine receptors

P. Angelo Marangi, Simon T. Wieland, Christian Fuhrer

J Cell Biol. 2002 May 28; 157(5): 883–895. doi: 10.1083/jcb.200202110

PMCID:: PMC2173406

Article PDF–588K

Select item 21733525.

Tyrosine-phosphorylated and nonphosphorylated isoforms of α-dystrobrevin: roles in skeletal muscle and its neuromuscular and myotendinous junctions

R. Mark Grady, Mohammed Akaaboune, Alexander L. Cohen, Margaret M. Maimone, Jeff W. Lichtman, Joshua R. Sanes

J Cell Biol. 2003 Mar 3; 160(5): 741–752. doi: 10.1083/jcb.200209045

PMCID:: PMC2173352

Article PDF–1.5M

Select item 1386266.

Characterization of Human Alpha-Dystrobrevin Isoforms in HL-60 Human Promyelocytic Leukemia Cells Undergoing Granulocytic Differentiation

Agné Kulyte, Ruta Navakauskiene, Grazina Treigyte, Arunas Gineitis, Tomas Bergman, Karl-Eric Magnusson

Mol Biol Cell. 2002 Dec; 13(12): 4195–4205. doi: 10.1091/mbc.E02-03-0128

PMCID:: PMC138626

Article PDF–490K

Select item 48348817.

Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease

Teresa Requena, Sonia Cabrera, Carmen Martín-Sierra, Steven D. Price, Anna Lysakowski, José A. Lopez-Escamez

Hum Mol Genet. 2015 Feb 15; 24(4): 1119–1126. Published online 2014 Oct 9. doi: 10.1093/hmg/ddu524

PMCID:: PMC4834881

Article PDF–563K

Select item 249748.

Dystrobrevin and dystrophin: An interaction through coiled-coil motifs

Hélène M. Sadoulet-Puccio, Michael Rajala, Louis M. Kunkel

Proc Natl Acad Sci U S A. 1997 Nov 11; 94(23): 12413–12418. doi: 10.1073/pnas.94.23.12413

PMCID:: PMC24974

Article PDF–461K

Select item 21203439.

Syntrophin binds to an alternatively spliced exon of dystrophin

J Cell Biol. 1995 Feb 1; 128(3): 363–371. doi: 10.1083/jcb.128.3.363

PMCID:: PMC2120343

Summary PDF–1.4M

Select item 3343810.

Desmuslin, an intermediate filament protein that interacts with α-dystrobrevin and desmin

Yuji Mizuno, Terri G. Thompson, Jeffrey R. Guyon, Hart G. W. Lidov, Melissa Brosius, Michihiro Imamura, Eijiro Ozawa, Simon C. Watkins, Louis M. Kunkel

Proc Natl Acad Sci U S A. 2001 May 22; 98(11): 6156–6161. Published online 2001 May 15. doi: 10.1073/pnas.111153298

PMCID:: PMC33438

Article PDF–452K

Select item 1818811.

β-dystrobrevin, a member of the dystrophin-related protein family

Derek J. Blake, Ralph Nawrotzki, Nellie Y. Loh, Dariusz C. Górecki, Kay E. Davies

Proc Natl Acad Sci U S A. 1998 Jan 6; 95(1): 241–246. doi: 10.1073/pnas.95.1.241

PMCID:: PMC18188

Article PDF–423K

Select item 336143812.

Control of neuronal differentiation by sumoylation of BRAF35, a subunit of the LSD1-CoREST histone demethylase complex

María Ceballos-Chávez, Sabrina Rivero, Pablo García-Gutiérrez, Manuel Rodríguez-Paredes, Mario García-Domínguez, Shomi Bhattacharya, José C. Reyes

Proc Natl Acad Sci U S A. 2012 May 22; 109(21): 8085–8090. Published online 2012 May 8. doi: 10.1073/pnas.1121522109

PMCID:: PMC3361438

Article PDF–1.1M

Select item 300311213.

α-Dystrobrevin-1 recruits α-catulin to the α_1D-adrenergic receptor/dystrophin-associated protein complex signalosome

John S. Lyssand, Jennifer L. Whiting, Kyung-Soon Lee, Ryan Kastl, Jennifer L. Wacker, Michael R. Bruchas, Mayumi Miyatake, Lorene K. Langeberg, Charles Chavkin, John D. Scott, Richard G. Gardner, Marvin E. Adams, Chris Hague

Proc Natl Acad Sci U S A. 2010 Dec 14; 107(50): 21854–21859. Published online 2010 Nov 29. doi: 10.1073/pnas.1010819107