The DST gene in neurobiology

References

• Ali, A., Hu, L., Zhao, F., Qiu, W., Wang, P., Ma, X., Zhang, Y., Chen, L., & Qian, A. (2017). BPAG1, a distinctive role in skin and neurological diseases. Seminars in Cell & Developmental Biology, 69, 34–39. doi:10.1016/j.semcdb.2017.06.005.
   PubMed Web of Science ®Google Scholar
• Ase, A. R., Strazielle, C., Hébert, C., Botez, M. I., LaLonde, R., Descarries, L., & Reader, T. A. (2000). The central serotonin system in dystonia musculorum mutant mice: biochemical, autoradiographic and immunocytochemical data. Synapse, 37(3), 179–193. doi:10.1002/1098-2396(20000901)37:3<179::AID-SYN2>3.0.CO;2-0.
   PubMed Web of Science ®Google Scholar
• Bernier, G., & Kothary, R. (1998). Prenatal onset of axonopathy in dystonia musculorum mice. Developmental Genetics, 22(2), 160–168. doi:10.1002/(SICI)1520-6408(1998)22:2<160::AID-DVG5>3.0.CO;2-4.
   PubMedGoogle Scholar
• Bernier, G., Brown, A., Dalpé, G., De Repentigny, Y., Mathieu, M., & Kothary, R. (1995). Dystonin expression in the developing nervous system predominates in the neurons that degenerate in dystonia musculorum mutant mice. Molecular and Cellular Neurosciences, 6(6), 509–520. doi:10.1006/mcne.1995.0003.
   PubMed Web of Science ®Google Scholar
• Bernier, G., De Repentigny, Y., Mathieu, M., David, S., & Kothary, R. (1998). Dystonin is an essential component of the Schwann cell cytoskeleton at the time of myelination. Development (Cambridge, England), 125(11), 2135–2148. doi:10.1242/dev.125.11.2135.
   PubMed Web of Science ®Google Scholar
• Bhanot, K., Young, K. G., & Kothary, R. (2011). MAP1B and clathrin are novel interacting partners of the giant cyto-linker dystonin. Journal of Proteome Research, 10(11), 5118–5127. doi:10.1021/pr200564g.
   PubMed Web of Science ®Google Scholar
• Bronson, R. T., Sweet, H. O., Spencer, C. A., & Davisson, M. T. (1992). Genetic and age related models of neurodegeneration in mice: dystrophic axons. Journal of Neurogenetics, 8(2), 71–83. doi:10.3109/01677069209084153.
   PubMed Web of Science ®Google Scholar
• Brown, A., Bernier, G., Mathieu, M., Rossant, J., & Kothary, R. (1995). The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Nature Genetics, 10(3), 301–306. doi:10.1038/ng0795-301.
   PubMed Web of Science ®Google Scholar
• Carlsten, J. A., Kothary, R., & Wright, D. E. (2001). Glial cell line-derived neurotrophic factor-responsive and neurotrophin-3-responsive neurons require the cytoskeletal linker protein dystonin for postnatal survival. The Journal of Comparative Neurology, 432(2), 155–168. doi:10.1002/cne.1094.
   PubMed Web of Science ®Google Scholar
• Campbell, R. M., & Peterson, A. C. (1992). An intrinsic neuronal defect operates in dystonia musculorum: a study of dt/dt⇔+/+ chimeras. Neuron, 9(4), 693–703. doi:10.1016/0896-6273(92)90032-9.
   PubMed Web of Science ®Google Scholar
• Cappuccio, G., Pinelli, M., Torella, A., Alagia, M., Auricchio, R., Staiano, A., Nigro, V., T.U.D.P., & Brunetti-Pierri, N. (2017). Expanding the phenotype of DST-related disorder: a case report suggesting a genotype/phenotype correlation. American Journal of Medical Genetics. Part A, 173(10), 2743–2746. doi:10.1002/ajmg.a.38367.
   PubMed Web of Science ®Google Scholar
• Capri, Y., Bourmance, L., Dupont, C., Saint-Frison, M. H., Guimiot, F., Grotto, S., Chitrit, Y., Laquerrière, A., & Melki, J. (2023). DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy. Clinical Genetics, 104(5), 587–592. doi:10.1111/cge.14397.
   PubMed Web of Science ®Google Scholar
• Chen, Y., Hong, Z., Wang, J., Liu, K., Liu, J., Lin, J., Feng, S., Zhang, T., Shan, L., Liu, T., Guo, P., Lin, Y., Li, T., Chen, Q., Jiang, X., Li, A., Li, X., Li, Y., Wilde, J. J., Bao, J., Dai, J., & Lu, Z. (2023). Circuit-specific gene therapy reverses core symptoms in a primate Parkinson’s disease model. Cell, 186S0092-8674(24), 5394–5410.e18. doi:10.1016/j.cell.2023.10.004.
   PubMed Web of Science ®Google Scholar
• Choong, C. J., Baba, K., & Mochizuki, H. (2016). Gene therapy for neurological disorders. Expert Opinion on Biological Therapy, 16(2), 143–159. doi:10.1517/14712598.2016.1114096.
   PubMed Web of Science ®Google Scholar
• Clément, C., Lalonde, R., & Strazielle, C. (2012). Acetylcholinesterase activity in the brain of dystonia musculorum Dstdt-J mutant mice. Neuroscience Research, 72(1), 79–86. doi:10.1016/j.neures.2011.09.005.
   PubMed Web of Science ®Google Scholar
• Combs, B., Kneynsberg, A., & Kanaan, N. M. (2016). Gene therapy models of Alzheimer’s disease and other dementias. Methods in Molecular Biology (Clifton, N.J.), 1382, 339–366. doi:10.1007/978-1-4939-3271-9_25.
   PubMedGoogle Scholar
• Dalpé, G., Leclerc, N., Vallée, A., Messer, A., Mathieu, M., De Repentigny, Y., & Kothary, R. (1998). Dystonin is essential for maintaining neuronal cytoskeleton organization. Molecular and Cellular Neurosciences, 10(5/6), 243–257. doi:10.1006/mcne.1997.0660.
   Web of Science ®Google Scholar
• Dalpé, G., Mathieu, M., Comtois, A., Zhu, E., Wasiak, S., De Repentigny, Y., Leclerc, N., & Kothary, R. (1999). Dystonin-deficient mice exhibit an intrinsic muscle weakness and an instability of skeletal muscle cytoarchitecture. Developmental Biology, 210(2), 367–380. doi:10.1006/dbio.1999.9263.
   PubMed Web of Science ®Google Scholar
• De Repentigny, Y., Deschênes-Furry, J., Jasmin, B. J., & Kothary, R. (2003). Impaired fast axonal transport in neurons of the sciatic nerves from dystonia musculorum mice. Journal of Neurochemistry, 86(3), 564–571. doi:10.1046/j.1471-4159.2003.01861.x.
   PubMed Web of Science ®Google Scholar
• De Repentigny, Y., Ferrier, A., Ryan, S. D., Sato, T., & Kothary, R. (2011). Motor unit abnormalities in dystonia musculorum mice. PLoS One, 6(6), e21093. doi:10.1371/journal.pone.0021093.
   PubMed Web of Science ®Google Scholar
• Dowling, J., Yang, Y., Wollmann, R., Reichardt, L. F., & Fuchs, E. (1997). Developmental expression of BPAG1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice. Developmental Biology, 187(2), 131–142. doi:10.1006/dbio.1997.8567.
   PubMed Web of Science ®Google Scholar
• Duchen, L. W. (1976). Dystonia musculorum, an inherited disease of the nervous system of the mouse. Advances in Neurology, 14, 353–365.
   PubMedGoogle Scholar
• Duchen, L. W., Strich, S. J., & Falconer, D. S. (1964). Clinical and pathological studies of an hereditary neuropathy in mice (Dystonia musculorum). Brain : A Journal of Neurology, 87(2), 367–378. doi:10.1093/brain/87.2.367.
   PubMed Web of Science ®Google Scholar
• Edvardson, S., Cinnamon, Y., Jalas, C., Shaag, A., Maayan, C., Axelrod, F. B., & Elpeleg, O. (2012). Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Annals of Neurology, 71(4), 569–572. doi:10.1002/ana.23524.
   PubMed Web of Science ®Google Scholar
• Ferrier, A., Boyer, J. G., & Kothary, R. (2013). Cellular and molecular biology of neuronal dystonin. International Review of Cell and Molecular Biology, 300, 85–120. doi:10.1016/B978-0-12-405210-9.00003-5.
   PubMed Web of Science ®Google Scholar
• Ferrier, A., De Repentigny, Y., Lynch-Godrei, A., Gibeault, S., Eid, W., Kuo, D., Zha, X., & Kothary, R. (2015). Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice. Autophagy, 11(7), 1025–1036. doi:10.1080/15548627.2015.1052207.
   PubMed Web of Science ®Google Scholar
• Ferrier, A., Sato, T., De Repentigny, Y., Gibeault, S., Bhanot, K., O'Meara, R. W., Lynch-Godrei, A., Kornfeld, S. F., Young, K. G., & Kothary, R. (2014). Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI. Human Molecular Genetics, 23(10), 2694–2710. doi:10.1093/hmg/ddt663.
   PubMed Web of Science ®Google Scholar
• Fortugno, P., Angelucci, F., Cestra, G., Camerota, L., Ferraro, A. S., Cordisco, S., Uccioli, L., Castiglia, D., De Angelis, B., Kurth, I., Kornak, U., & Brancati, F. (2019). Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI. Human Mutation, 40(1), 106–114. doi:10.1002/humu.23678.
   PubMed Web of Science ®Google Scholar
• Giorda, R., Cerritello, A., Bonaglia, M. C., Bova, S., Lanzi, G., Repetti, E., Giglio, S., Baschirotto, C., Pramparo, T., Avolio, L., Bragheri, R., Maraschio, P., & Zuffardi, O. (2004). Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia. Journal of Medical Genetics, 41(6), e71–e71. doi:10.1136/jmg.2003.012260.
   PubMed Web of Science ®Google Scholar
• Goryunov, D., Adebola, A., Jefferson, J. J., Leung, C. L., Messer, A., & Liem, R. K. (2007). Molecular characterization of the genetic lesion in dystonia musculorum (dt-Alb) mice. Brain Research, 1140, 179–187. doi:10.1016/j.brainres.2006.04.068.
   PubMed Web of Science ®Google Scholar
• Guo, L., Degenstein, L., Dowling, J., Yu, Q. C., Wollmann, R., Perman, B., & Fuchs, E. (1995). Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell, 81(2), 233–243. doi:10.1016/0092-8674(95)90333-x.
   PubMed Web of Science ®Google Scholar
• Hartmann, N., Martrette, J. M., Strazielle, C., & Westphal, A. (1999). Dystonia musculorum mutation and myosin heavy chain expression in skeletal and cardiac muscles. Journal of Cellular Biochemistry, 74(1), 90–98. doi:10.1002/(SICI)1097-4644(19990701)74:1<90::AID-JCB10>3.3.CO;2-H.
   PubMed Web of Science ®Google Scholar
• Hirch, T., Brander, N., Schenk, F., Pöllmann, S. J., Reichenbach, J., Schubert, R., & Modlich, U. (2023). Expression of a large coding sequence: Gene therapy vectors for Ataxia Telangiectasia. Scientific Reports, 13(1), 19386. doi:10.1038/s41598-023-46332-4.
   PubMed Web of Science ®Google Scholar
• Horie, M., Watanabe, K., Bepari, A. K., Nashimoto, J., Araki, K., Sano, H., Chiken, S., Nambu, A., Ono, K., Ikenaka, K., Kakita, A., Yamamura, K., & Takebayashi, H. (2014). Disruption of actin-binding domain-containing Dystonin protein causes dystonia musculorum in mice. The European Journal of Neuroscience, 40(10), 3458–3471. doi:10.1111/ejn.12711.
   PubMed Web of Science ®Google Scholar
• Horie, M., Yoshioka, N., Kusumi, S., Sano, H., Kurose, M., Watanabe-Iida, I., Hossain, I., Chiken, S., Abe, M., Yamamura, K., Sakimura, K., Nambu, A., Shibata, M., & Takebayashi, H. (2020). Disruption of dystonin in Schwann cells results in late-onset neuropathy and sensory ataxia. Glia, 68(11), 2330–2344. doi:10.1002/glia.23843.
   PubMed Web of Science ®Google Scholar
• Horie, M., Mekada, K., Sano, H., Kikkawa, Y., Chiken, S., Someya, T., Saito, K., Hossain, M. I., Nameta, M., Abe, K., Sakimura, K., Ono, K., Nambu, A., Yoshiki, A., & Takebayashi, H. (2016). Characterization of novel dystonia musculorum mutant mice: implications for central nervous system abnormality. Neurobiology of Disease, 96, 271–283. doi:10.1016/j.nbd.2016.09.016.
   PubMed Web of Science ®Google Scholar
• Hossain, M. I., Horie, M., & Takebayashi, H. (2018a). Reduced proliferation of oligodendrocyte progenitor cells in the postnatal brain of dystonia musculorum mice. Neurochemical Research, 43(1), 101–109. doi:10.1007/s11064-017-2342-5.
   PubMed Web of Science ®Google Scholar
• Hossain, M. I., Horie, M., Yoshioka, N., Kurose, M., Yamamura, K., & Takebayashi, H. (2018b). Motoneuron degeneration in the trigeminal motor nucleus innervating the masseter muscle in dystonia musculorum mice. Neurochemistry International, 119, 159–170. doi:10.1016/j.neuint.2017.10.009.
   PubMed Web of Science ®Google Scholar
• Ichikawa, H., De Repentigny, Y., Kothary, R., & Sugimoto, T. (2006). The survival of vagal and glossopharyngeal sensory neurons is dependent upon dystonin. Neuroscience, 137(2), 531–536. doi:10.1016/j.neuroscience.2005.08.081.
   PubMed Web of Science ®Google Scholar
• Ichikawa, H., Terayama, R., Yamaai, T., De Repentigny, Y., Kothary, R., & Sugimoto, T. (2008). The number of nociceptors in the trigeminal ganglion but not proprioceptors in the mesencephalic trigeminal tract nucleus is reduced in dystonin deficient dystonia musculorum mice. Brain Research, 1226, 33–38. doi:10.1016/j.brainres.2008.05.063.
   PubMed Web of Science ®Google Scholar
• Janota, I. (1972). Ultrastructural studies of an hereditary sensory neuropathy in mice (dystonia musculorum). Brain : a Journal of Neurology, 95(3), 529–536. doi:10.1093/brain/95.3.529.
   PubMedGoogle Scholar
• Jefferson, J. J., Leung, C. L., & Liem, R. K. (2006). Dissecting the sequence specific functions of alternative N-terminal isoforms of mouse bullous pemphigoid antigen 1. Experimental Cell Research, 312(15), 2712–2725. doi:10.1016/j.yexcr.2006.04.025.
   PubMed Web of Science ®Google Scholar
• Jin, J. Y., Wu, P. F., He, J. Q., Fan, L. L., Yuan, Z. Z., Pang, X. Y., Tang, J. Y., & Zhang, L. Y. (2020). Novel compound heterozygous DST variants causing hereditary sensory and autonomic neuropathies VI in twins of a Chinese family. Frontiers in Genetics, 11, 492. doi:10.3389/fgene.2020.00492.
   PubMed Web of Science ®Google Scholar
• Khalesi, R., Harvey, N., Garshasbi, M., Kalamati, E., Youssefian, L., Vahidnezhad, H., & Uitto, J. (2022). Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI). Experimental Dermatology, 31(6), 949–955. doi:10.1111/exd.14562.
   PubMed Web of Science ®Google Scholar
• Kornfeld, S. F., Lynch-Godrei, A., Bonin, S. R., Gibeault, S., De Repentigny, Y., & Kothary, R. (2016). Cytoskeletal linker protein dystonin this not critical to terminal oligodendrocyte differentiation or CNS myelination. PLoS One, 11(2), e0149201. doi:10.1371/journal.pone.0149201.
   PubMed Web of Science ®Google Scholar
• Kothary, R., Clapoff, S., Brown, A., Campbell, R., Peterson, A., & Rossant, J. (1988). A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube. Nature, 335(6189), 435–437. doi:10.1038/335435a0.
   PubMed Web of Science ®Google Scholar
• Künzli, K., Favre, B., Chofflon, M., & Borradori, L. (2016). One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1. Experimental Dermatology, 25(1), 10–16. doi:10.1111/exd.12877.
   PubMed Web of Science ®Google Scholar
• Lalonde, R., & Strazielle, C. (1999). Motor performance of spontaneous murine mutations with cerebellar atrophy. In W. Crusio, R. Gerlai, (Eds.), Handbook of molecular–genetic techniques for brain and behavior research. Techniques in Behavioral and Neural Sciences., vol. 13, pp. 627–637. Elsevier, Amsterdam.
   Google Scholar
• Lalonde, R., Joyal, C. C., & Botez, M. I. (1994). Exploration and motor coordination in dystonia musculorum mutant mice. Physiology & Behavior, 56(2), 277–280. doi:10.1016/0031-9384(94)90195-3.
   PubMed Web of Science ®Google Scholar
• Lalonde, R., Marchetti, N., & Strazielle, C. (2005). Primary neurologic screening and motor coordination of Dstdt-J mutant mice (dystonia musculorum) with spinocerebellar atrophy. Physiology & Behavior, 86(1-2), 46–51. doi:10.1016/j.physbeh.2005.06.028.
   PubMed Web of Science ®Google Scholar
• Lalonde, R., Joyal, C. C., & Cote, C. (1993). Swimming activity in dystonia musculorum mutant mice. Physiology & Behavior, 54(1), 119–120. doi:10.1016/0031-9384(93)90052-h.
   PubMed Web of Science ®Google Scholar
• Leung, C. L., Sun, D., & Liem, R. K. (1999). The intermediate filament protein peripherin is the specific interaction partner of mouse BPAG1-n (dystonin) in neurons. The Journal of Cell Biology, 144(3), 435–446. doi:10.1083/jcb.144.3.435.
   PubMed Web of Science ®Google Scholar
• Leung, C. L., Zheng, M., Prater, S. M., & Liem, R. K. (2001). The BPAG1 locus: Alternative splicing produces multiple isoforms with distinct cytoskeletal linker domains, including predominant isoforms in neurons and muscles. The Journal of Cell Biology, 154(4), 691–697. doi:10.1083/jcb.200012098.
   PubMed Web of Science ®Google Scholar
• Litjens, S. H., Koster, J., Kuikman, I., van Wilpe, S., de Pereda, J. M., & Sonnenberg, A. (2003). Specificity of binding of the plectin actin-binding domain to β4 integrin. Molecular Biology of the Cell, 14(10), 4039–4050. doi:10.1091/mbc.e03-05-0268.
   PubMed Web of Science ®Google Scholar
• Liu, J. J., Ding, J., Wu, C., Bhagavatula, P., Cui, B., Chu, S., Mobley, W. C., & Yang, Y. (2007). Retrolinkin, a membrane protein, plays an important role in retrograde axonal transport. Proceedings of the National Academy of Sciences of the United States of America, 104(7), 2223–2228. doi:10.1073/pnas.0602222104.
   PubMed Web of Science ®Google Scholar
• Liu, J. J., Ding, J., Kowal, A. S., Nardine, T., Allen, E., Delcroix, J. D., Wu, C., Mobley, W., Fuchs, E., & Yang, Y. (2003). BPAG1n4 is essential for retrograde axonal transport in sensory neurons. The Journal of Cell Biology, 163(2), 223–229. doi:10.1083/jcb.200306075.
   PubMed Web of Science ®Google Scholar
• Lynch-Godrei, A., & Kothary, R. (2016). Functional and genetic analysis of neuronal isoforms of BPAG1. Methods in Enzymology, 569, 355–372. doi:10.1016/bs.mie.2015.05.004.
   PubMed Web of Science ®Google Scholar
• Lynch-Godrei, A., & Kothary, R. (2020). HSAN-VI: a spectrum disorder based on dystonin isoform expression. Neurology Genetics, 6(1), e389. doi:10.1212/NXG.0000000000000389.
   PubMed Web of Science ®Google Scholar
• Lynch-Godrei, A., De Repentigny, Y., Ferrier, A., Gagnon, S., & Kothary, R. (2021). Dystonin loss-of-function leads to impaired autophagosome-endolysosome pathway dynamics. Biochemistry and Cell Biology = Biochimie et Biologie Cellulaire, 99(3), 364–373. doi:10.1139/bcb-2020-0557.
   PubMedGoogle Scholar
• Lynch-Godrei, A., De Repentigny, Y., Gagnon, S., Trung, M. T., & Kothary, R. (2018). Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI. Human Molecular Genetics, 27(20), 3598–3611. doi:10.1093/hmg/ddy250.
   PubMed Web of Science ®Google Scholar
• Manganelli, F., Parisi, S., Nolano, M., Tao, F., Paladino, S., Pisciotta, C., Tozza, S., Nesti, C., Rebelo, A. P., Provitera, V., Santorelli, F. M., Shy, M. E., Russo, T., Zuchner, S., & Santoro, L. (2017). Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. Neurology, 88(22), 2132–2140. doi:10.1212/WNL.0000000000003992.
   PubMed Web of Science ®Google Scholar
• Messer, A. (1982). Amino acid changes in the mouse mutant dystonia musculorum similar to those in Friedreich’s ataxia. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 9(2), 185–188. doi:10.1017/s0317167100043936.
   PubMed Web of Science ®Google Scholar
• Messer, A., & Gordon, D. (1979). Changes in whole tissue biosynthesis of gamma-amino butyric acid (GABA) in basal ganglia of the dystonia (dtAlb) mouse. Life Sciences, 25(26), 2217–2221. doi:10.1016/0024-3205(79)90095-x.
   PubMed Web of Science ®Google Scholar
• Messer, A., & Strominger, N. L. (1980). An allele of the mouse mutant dystonia musculorum exhibits lesions in red nucleus and striatum. Neuroscience, 5(3), 543–549. doi:10.1016/0306-4522(80)90051-2.
   PubMed Web of Science ®Google Scholar
• Motley, W. W., Züchner, S., & Scherer, S. S. (2020). Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy. Neurology Genetics, 6(5), e496. doi:10.1212/NXG.0000000000000496.
   PubMed Web of Science ®Google Scholar
• Moss, T. H. (1981). Segmental demyelination in the peripheral nerves of mice affected by a hereditary neuropathy (dystonia musculorum). Acta Neuropathologica, 53(1), 51–56. doi:10.1007/BF00697184.
   PubMed Web of Science ®Google Scholar
• Muñoz-Lasso, D. C., Romá-Mateo, C., Pallardó, F. V., & Gonzalez-Cabo, P. (2020). Much more than a scaffold: cytoskeletal proteins in neurological disorders. Cells, 9(2), 358. doi:10.3390/cells9020358.
   PubMed Web of Science ®Google Scholar
• Muppirala, A. N., Limbach, L. E., Bradford, E. F., & Petersen, S. C. (2020). Schwann cell development: From neural crest to myelin sheath. Wiley Interdisciplinary Reviews. Developmental Biology, 10(5), e398. doi:10.1002/wdev.398.
   PubMed Web of Science ®Google Scholar
• Nodari, A., Previtali, S. C., Dati, G., Occhi, S., Court, F. A., Colombelli, C., Zambroni, D., Dina, G., Del Carro, U., Campbell, K. P., Quattrini, A., Wrabetz, L., & Feltri, M. L. (2008). Alpha6beta4 integrin and dystroglycan cooperate to stabilize the myelin sheath. The Journal of Neuroscience: The Official Journal of the Society for Neuroscience, 28(26), 6714–6719. doi:10.1523/JNEUROSCI.0326-08.2008.
   PubMed Web of Science ®Google Scholar
• Ongali, B., Ase, A. R., Hébert, C., Amdiss, F., & Reader, T. A. (2000). Dopamine D(1) and D(2) receptors in the forebrain of dystonia musculoruminItalics mutant mice: an autoradiographic survey in relation to dopamine contents. Synapse, 37(1), 1–15. doi:10.1002/(SICI)1098-2396(200007)37:1<1::AID-SYN1>3.0.CO;2-9.
   PubMed Web of Science ®Google Scholar
• Pena, S. A., Iyengar, R., Eshraghi, R. S., Bencie, N., Mittal, J., Aljohani, A., Mittal, R., & Eshraghi, A. A. (2020). Gene therapy for neurological disorders: challenges and recent advancements. Journal of Drug Targeting, 28(2), 111–128. doi:10.1080/1061186X.2019.1630415.
   PubMed Web of Science ®Google Scholar
• Perkins, A. S. (2002). Functional genomics in the mouse. Functional & Integrative Genomics, 2(3), 81–91. doi:10.1007/s10142-002-0049-3.
   PubMedGoogle Scholar
• Poliakova, K., Adebola, A., Leung, C. L., Favre, B., Liem, R. K., Schepens, I., & Borradori, L. (2014). BPAG1a and b associate with EB1 and EB3 and modulate vesicular transport, Golgi apparatus structure, and cell migration in C2.7 myoblasts. PLoS One, 9(9), e107535. doi:10.1371/journal.pone.0107535.
   PubMed Web of Science ®Google Scholar
• Ponomarev, A. S., Chulpanova, D. S., Yanygina, L. M., Solovyeva, V. V., & Rizvanov, A. A. (2023). Emerging gene therapy approaches in the management of spinal muscular atrophy (SMA): An overview of clinical trials and patent landscape. International Journal of Molecular Sciences, 24(18), 13743. doi:10.3390/ijms241813743.
   PubMed Web of Science ®Google Scholar
• Pool, M., Rippstein, P., McBride, H., & Kothary, R. (2006). Trafficking of macromolecules and organelles in cultured dystonia musculorumin sensory neurons is normal. The Journal of Comparative Neurology, 494(4), 549–558. doi:10.1002/cne.20815.
   PubMed Web of Science ®Google Scholar
• Pool, M., Boudreau Larivière, C., Bernier, G., Young, K. G., & Kothary, R. (2005). Genetic alterations at the Bpag1 locus in dt mice and their impact on transcript expression. Mammalian Genome: Official Journal of the International Mammalian Genome Society, 16(12), 909–917. doi:10.1007/s00335-005-0073-4.
   PubMed Web of Science ®Google Scholar
• Riker, D. K., Messer, A., & Roth, R. H. (1981). Increased noradrenergic metabolism in the cerebellum of the mouse mutant dystonia musculorum. Journal of Neurochemistry, 37(3), 649–654. doi:10.1111/j.1471-4159.1982.tb12536.x.
   PubMed Web of Science ®Google Scholar
• Rojsajjakul, T., Hordeaux, J. J., Choudhury, G. R., Hinderer, C. J., Mesaros, C., Wilson, J. M., & Blair, I. A. (2023). Quantification of human mature frataxin protein expression in nonhuman primate hearts after gene therapy. Communications Biology, 6(1), 1093. doi:10.1038/s42003-023-05472-z.
   PubMed Web of Science ®Google Scholar
• Ryan, S. D., Bhanot, K., Ferrier, A., De Repentigny, Y., Chu, A., Blais, A., & Kothary, R. (2012a). Microtubule stability, Golgi organization, and transport flux require dystonin-a2-MAP1B interaction. The Journal of Cell Biology, 196(6), 727–742. doi:10.1083/jcb.201107096.
   PubMed Web of Science ®Google Scholar
• Ryan, S. D., Ferrier, A., Sato, T., O'Meara, R. W., De Repentigny, Y., Jiang, S. X., Hou, S. T., & Kothary, R. (2012b). Neuronal dystonin isoform 2 is a mediator of endoplasmic reticulum structure and function. Molecular Biology of the Cell, 23(4), 553–566. doi:10.1091/mbc.E11-06-0573.
   PubMed Web of Science ®Google Scholar
• Sakaria, R. P., Fonville, M. P., Peravali, S., Zaveri, P. G., Mroczkowski, H. J., Caron, E., & Weems, M. F. (2022). A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review. American Journal of Medical Genetics. Part A, 188(4), 1245–1250. doi:10.1002/ajmg.a.62609.
   PubMed Web of Science ®Google Scholar
• Saulnier, R., De Repentigny, Y., Yong, V. W., & Kothary, R. (2002). Alterations in myelination in the central nervous system of dystonia musculorum mice. Journal of Neuroscience Research, 69(2), 233–242. doi:10.1002/jnr.10289.
   PubMed Web of Science ®Google Scholar
• Seehusen, F., Kiel, K., Jottini, S., Wohlsein, P., Habierski, A., Seibel, K., Vogel, T., Urlaub, H., Kollmar, M., Baumgärtner, W., & Teichmann, U. (2016). Axonopathy in the central nervous system is the hallmark of mice with a novel intragenic null mutation of dystonin. Genetics, 204(1), 191–203. doi:10.1534/genetics.116.186932.
   PubMed Web of Science ®Google Scholar
• Sotelo, C., & Guenet, J. L. (1988). Pathologic changes in the CNS of dystonia musculorum mutant mouse: an animal model for human spinocerebellar ataxia. Neuroscience, 27(2), 403–424. doi:10.1016/0306-4522(88)90277-1.
   PubMed Web of Science ®Google Scholar
• Stanley, E., Messer, A., & Strominger, N. L. (1983). Effects of age and strain differences on the red nucleus of the mouse mutant dystonia musculorum. The Anatomical Record, 206(3), 313–318. doi:10.1002/ar.1092060310.
   PubMedGoogle Scholar
• Strazielle, C., Ase, A. R., Lalonde, R., & Reader, T. (2002). Biochemical and autoradiographic studies of the central noradrenergic system in dystonia musculorum mutant mice. Journal of Chemical Neuroanatomy, 23(2), 143–155. doi:10.1016/s0891-0618(01)00154-5.
   PubMed Web of Science ®Google Scholar
• Strazielle, C., Lalonde, R., Amdiss, F., Botez, M. I., Hébert, C., & Reader, T. A. (1998). Distribution of dopamine transporters in basal ganglia of cerebellar ataxic mice by [125I]RTI-121 quantitative autoradiography. Neurochemistry International, 32(1), 61–68. doi:10.1016/s0197-0186(97)00042-9.
   PubMed Web of Science ®Google Scholar
• Tseng, K. W., Lu, K. S., & Chien, C. L. (2006). A possible cellular mechanism of neuronal loss in the dorsal root ganglia of dystonia musculorum (dt) mice. Journal of Neuropathology and Experimental Neurology, 65(4), 336–347. doi:10.1097/01.jnen.0000218448.39944.f1.
   PubMed Web of Science ®Google Scholar
• Tseng, K. W., Chau, Y. P., Yang, M. F., Lu, K. S., & Chien, C. L. (2008). Abnormal cellular translocation of α-internexin in spinal motor neurons of dystonia musculorum mice. The Journal of Comparative Neurology, 507(1), 1053–1064. doi:10.1002/cne.21606.
   PubMed Web of Science ®Google Scholar
• Tseng, K. W., Peng, M. L., Wen, Y. C., Liu, K. J., & Chien, C. L. (2011). Neuronal degeneration in autonomic nervous system of dystonia musculorum mice. Journal of Biomedical Science, 18(1), 9. doi:10.1186/1423-0127-18-9.
   PubMedGoogle Scholar
• Yang, Y., Bauer, C., Strasser, G., Wollman, R., Julien, J. P., & Fuchs, E. (1999). Integrators of the cytoskeleton that stabilize microtubules. Cell, 98(2), 229–238. doi:10.1016/s0092-8674(00)81017-x.
   PubMed Web of Science ®Google Scholar
• Yang, Y., Dowling, J., Yu, Q. C., & Kouklis, P., Cleveland, D. W., & Fuchs, E. (1996). An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments. Cell, 86(4), 655–665. doi:10.1016/s0092-8674(00)80138-5.
   PubMed Web of Science ®Google Scholar
• Yoshioka, N. (2023). Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues. Anatomical Science International, 99(1), 7–16. doi:10.1007/s12565-023-00739-1.
   PubMed Web of Science ®Google Scholar
• Yoshioka, N., Kurose, M., Yano, M., Tran, D. M., Okuda, S., Mori-Ochiai, Y., Horie, M., Nagai, T., Nishino, I., Shibata, S., & Takebayashi, H. (2022). Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy. eLife, 11, e78419. doi:10.7554/eLife.78419.
   PubMed Web of Science ®Google Scholar
• Yoshioka, N., Kabata, Y., Kuriyama, M., Bizen, N., Zhou, L., Tran, D. M., Yano, M., Yoshiki, A., Ushiki, T., Sproule, T. J., Abe, R., & Takebayashi, H. (2020). Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice. Disease Models & Mechanisms, 13(5), dmm041608. doi:10.1242/dmm.041608.
   PubMed Web of Science ®Google Scholar
• Young, K. G., & Kothary, R. (2008). Dystonin/Bpag1 is a necessary endoplasmic reticulum/nuclear envelope protein in sensory neurons. Experimental Cell Research, 314(15), 2750–2761. doi:10.1016/j.yexcr.2008.06.021.
   PubMed Web of Science ®Google Scholar
• Young, K. G., & Kothary, R. (2007). Dystonin/Bpag1- a link to what? Cell Motility and the Cytoskeleton, 64(12), 897–905. doi:10.1002/cm.20235.
   PubMed Web of Science ®Google Scholar
• Young, K. G., Pinheiro, B., & Kothary, R. (2006). A Bpag1 isoform involved in cytoskeletal organization surrounding the nucleus. Experimental Cell Research, 312(2), 121–134. doi:10.1016/j.yexcr.2005.10.002.
   PubMed Web of Science ®Google Scholar