Literature DB >> 24576458

A long type of TBCK is a novel cytoplasmic and mitotic apparatus-associated protein likely suppressing cell proliferation.

Jin Wu1, Qianyi Li2, Yan Li2, Jing Lin2, Dong Yang2, Guixin Zhu2, Limin Wang2, Dacheng He2, Guanting Lu3, Changqing Zeng4.   

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Year:  2014        PMID： 24576458     DOI： 10.1016/j.jgg.2013.12.006

Source DB:  PubMed          Journal:  J Genet Genomics        ISSN： 1673-8527            Impact factor:   4.275


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  8 in total

1.  Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK.

Authors:  Simona Saredi; Edmund S Cauley; Alessandra Ruggieri; Tyler M Spivey; Anna Ardissone; Marina Mora; Isabella Moroni; M Chiara Manzini
Journal:  Muscle Nerve       Date:  2020-05-27       Impact factor: 3.217

2.  Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report.

Authors:  Hao-Yi Tan; Bin Wang; Yuan-Zong Song
Journal:  BMC Pediatr       Date:  2022-10-22       Impact factor: 2.567

3.  Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.

Authors:  Xilma R Ortiz-González; Jesus A Tintos-Hernández; Kierstin Keller; Xueli Li; A Reghan Foley; Diana X Bharucha-Goebel; Sudha K Kessler; Sabrina W Yum; Peter B Crino; Miao He; Douglas C Wallace; Carsten G Bönnemann
Journal:  Ann Neurol       Date:  2018-01       Impact factor: 11.274

4.  Mutation of TBCK causes a rare recessive developmental disorder.

Authors:  Rita J Guerreiro; Rachel Brown; Donnai Dian; Christian de Goede; Jose Bras; Sara E Mole
Journal:  Neurol Genet       Date:  2016-05-24

5.  Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.

Authors:  Danielle de Paula Moreira; Angela May Suzuki; André Luiz Teles E Silva; Elisa Varella-Branco; Maria Cecília Zorél Meneghetti; Gerson Shigeru Kobayashi; Mariana Fogo; Merari de Fátima Ramires Ferrari; Rafaela Regina Cardoso; Naila Cristina Vilaça Lourenço; Karina Griesi-Oliveira; Elaine Cristina Zachi; Débora Romeo Bertola; Karina de Souza Weinmann; Marcelo Andrade de Lima; Helena Bonciani Nader; Andrea Laurato Sertié; Maria Rita Passos-Bueno
Journal:  Front Cell Neurosci       Date:  2022-01-13       Impact factor: 5.505

6.  Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy.

Authors:  Jesus A Tintos-Hernández; Adrian Santana; Kierstin N Keller; Xilma R Ortiz-González
Journal:  Brain Commun       Date:  2021-09-16

7.  Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

Authors:  Jessica X Chong; Viviana Caputo; Ian G Phelps; Lorenzo Stella; Lisa Worgan; Jennifer C Dempsey; Alina Nguyen; Vincenzo Leuzzi; Richard Webster; Antonio Pizzuti; Colby T Marvin; Gisele E Ishak; Simone Ardern-Holmes; Zara Richmond; Michael J Bamshad; Xilma R Ortiz-Gonzalez; Marco Tartaglia; Maya Chopra; Dan Doherty
Journal:  Am J Hum Genet       Date:  2016-03-31       Impact factor: 11.043

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

Authors:  Stefanie Beck-Wödl; Klaus Harzer; Marc Sturm; Rebecca Buchert; Olaf Rieß; Hans-Dieter Mennel; Elisabeth Latta; Axel Pagenstecher; Ursula Keber
Journal:  Acta Neuropathol Commun       Date:  2018-12-27       Impact factor: 7.801
  8 in total

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