Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Author:

Beck-Wödl Stefanie,Harzer Klaus,Sturm Marc,Buchert Rebecca,Rieß Olaf,Mennel Hans-Dieter,Latta Elisabeth,Pagenstecher Axel,Keber UrsulaORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine

Reference52 articles.

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3. Baumann RJ, Markesbery WR (1978) Juvenile amaurotic idiocy (neuronal ceroid lipofuscinosis) and lymphocyte fingerprint profiles. Ann Neurol 4:531–536. https://doi.org/10.1002/ana.410040609

4. Bhoj EJ, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, Juusola J, Douglas G, Guillen Sacoto MJ, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Narravula A, Walke M, Horner MB, Day-Salvatore DL, Jayakar P, Vergano SA, Tarnopolsky MA, Hegde M, Colleaux L, Crino P, Hakonarson H (2016) Mutations in TBCK, encoding TBC1-domain-containing kinase, lead to a recognizable syndrome of intellectual disability and hypotonia. Am J Hum Genet 98:782–788. https://doi.org/10.1016/j.ajhg.2016.03.016

5. Bidinosti M, Botta P, Kruttner S, Proenca CC, Stoehr N, Bernhard M, Fruh I, Mueller M, Bonenfant D, Voshol H, Carbone W, Neal SJ, McTighe SM, Roma G, Dolmetsch RE, Porter JA, Caroni P, Bouwmeester T, Luthi A, Galimberti I (2016) CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency. Science 351:1199–1203. https://doi.org/10.1126/science.aad5487

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