Literature DB >> 29194508

TMEM106B and myelination: rare leukodystrophy families reveal unexpected connections.

Xiaolai Zhou1, Rosa Rademakers1.   

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Year:  2017        PMID： 29194508      PMCID： PMC5841148          DOI： 10.1093/brain/awx318

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  11 in total

Review 1.  Cholesterol in myelin biogenesis and hypomyelinating disorders.

Authors:  Gesine Saher; Sina Kristin Stumpf
Journal:  Biochim Biophys Acta       Date:  2015-02-24

2.  Transport of the major myelin proteolipid protein is directed by VAMP3 and VAMP7.

Authors:  Anke Feldmann; Jesa Amphornrat; Madeleine Schönherr; Christine Winterstein; Wiebke Möbius; Torben Ruhwedel; Lydia Danglot; Klaus-Armin Nave; Thierry Galli; Dieter Bruns; Jacqueline Trotter; Eva-Maria Krämer-Albers
Journal:  J Neurosci       Date:  2011-04-13       Impact factor: 6.167

3.  A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

Authors:  Cas Simons; David Dyment; Stephen J Bent; Joanna Crawford; Marc D'Hooghe; Alfried Kohlschütter; Sunita Venkateswaran; Guy Helman; Bwee-Tien Poll-The; Christine C Makowski; Yoko Ito; Kristin Kernohan; Taila Hartley; Quinten Waisfisz; Ryan J Taft; Marjo S van der Knaap; Nicole I Wolf
Journal:  Brain       Date:  2017-12-01       Impact factor: 13.501

Review 4.  Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

Authors:  A Charzewska; J Wierzba; E Iżycka-Świeszewska; M Bekiesińska-Figatowska; M Jurek; A Gintowt; A Kłosowska; J Bal; D Hoffman-Zacharska
Journal:  Clin Genet       Date:  2016-06-17       Impact factor: 4.438

5.  Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice.

Authors:  Zoe A Klein; Hideyuki Takahashi; Mengxiao Ma; Massimiliano Stagi; Melissa Zhou; TuKiet T Lam; Stephen M Strittmatter
Journal:  Neuron       Date:  2017-07-19       Impact factor: 17.173

6.  A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.

Authors:  Cas Simons; Nicole I Wolf; Nathan McNeil; Ljubica Caldovic; Joseph M Devaney; Asako Takanohashi; Joanna Crawford; Kelin Ru; Sean M Grimmond; David Miller; Davide Tonduti; Johanna L Schmidt; Robert S Chudnow; Rudy van Coster; Lieven Lagae; Jill Kisler; Jürgen Sperner; Marjo S van der Knaap; Raphael Schiffmann; Ryan J Taft; Adeline Vanderver
Journal:  Am J Hum Genet       Date:  2013-04-11       Impact factor: 11.025

Review 7.  What we know about TMEM106B in neurodegeneration.

Authors:  Alexandra M Nicholson; Rosa Rademakers
Journal:  Acta Neuropathol       Date:  2016-08-20       Impact factor: 17.088

8.  Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.

Authors:  Simon Edvardson; Shingo Kose; Chaim Jalas; Aviva Fattal-Valevski; Ai Watanabe; Yutaka Ogawa; Hiroshi Mamada; Anastasia M Fedick; Shay Ben-Shachar; Nathan R Treff; Avraham Shaag; Sherri Bale; Jutta Gärtner; Naoko Imamoto; Orly Elpeleg
Journal:  J Med Genet       Date:  2015-11-06       Impact factor: 6.318

Review 9.  Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.

Authors:  Marjo S van der Knaap; Marianna Bugiani
Journal:  Acta Neuropathol       Date:  2017-06-21       Impact factor: 17.088

10.  The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.

Authors:  Jeremy M Baskin; Xudong Wu; Romain Christiano; Michael S Oh; Curtis M Schauder; Elisabetta Gazzerro; Mirko Messa; Simona Baldassari; Stefania Assereto; Roberta Biancheri; Federico Zara; Carlo Minetti; Andrea Raimondi; Mikael Simons; Tobias C Walther; Karin M Reinisch; Pietro De Camilli
Journal:  Nat Cell Biol       Date:  2015-11-16       Impact factor: 28.824
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  2 in total

Review 1.  The Role of Microglia in Inherited White-Matter Disorders and Connections to Frontotemporal Dementia.

Authors:  Daniel W Sirkis; Luke W Bonham; Jennifer S Yokoyama
Journal:  Appl Clin Genet       Date:  2021-03-31

2.  Aged Tmem106b knockout mice display gait deficits in coincidence with Purkinje cell loss and only limited signs of non-motor dysfunction.

Authors:  Stijn Stroobants; Rudi D'Hooge; Markus Damme
Journal:  Brain Pathol       Date:  2020-11-01       Impact factor: 6.508
  2 in total

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