Literature DB >> 20886605

Mutation in PQBP1 is associated with periventricular heterotopia.

Volney L Sheen1, Alcy R Torres, Xiang Du, Brenda Barry, Christopher A Walsh, Virginia E Kimonis.   

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Year:  2010        PMID： 20886605      PMCID： PMC3548238          DOI： 10.1002/ajmg.a.33507

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

Review 1.  Malformations of cortical development.

Authors:  Trudy Pang; Ramin Atefy; Volney Sheen
Journal:  Neurologist       Date:  2008-05       Impact factor: 1.398

2.  Renpenning syndrome comes into focus.

Authors:  Roger E Stevenson; C W Bennett; F Abidi; T Kleefstra; M Porteous; R J Simensen; H A Lubs; B C J Hamel; C E Schwartz
Journal:  Am J Med Genet A       Date:  2005-05-01       Impact factor: 2.802

3.  Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Authors:  Stephen P Robertson; Stephen R F Twigg; Andrew J Sutherland-Smith; Valérie Biancalana; Robert J Gorlin; Denise Horn; Susan J Kenwrick; Chong A Kim; Eva Morava; Ruth Newbury-Ecob; Karen H Orstavik; Oliver W J Quarrell; Charles E Schwartz; Deborah J Shears; Mohnish Suri; John Kendrick-Jones; Andrew O M Wilkie
Journal:  Nat Genet       Date:  2003-03-03       Impact factor: 38.330

4.  Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).

Authors:  T Kleefstra; C E Franken; Y H J M Arens; G J A Ramakers; H G Yntema; E A Sistermans; C F C H Hulsmans; W N Nillesen; H van Bokhoven; B B A de Vries; B C J Hamel
Journal:  Clin Genet       Date:  2004-10       Impact factor: 4.438

5.  Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

Authors:  J W Fox; E D Lamperti; Y Z Ekşioğlu; S E Hong; Y Feng; D A Graham; I E Scheffer; W B Dobyns; B A Hirsch; R A Radtke; S F Berkovic; P R Huttenlocher; C A Walsh
Journal:  Neuron       Date:  1998-12       Impact factor: 17.173

6.  Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.

Authors:  Vera M Kalscheuer; Kristine Freude; Luciana Musante; Lars R Jensen; Helger G Yntema; Jozef Gécz; Abdelaziz Sefiani; Kirsten Hoffmann; Bettina Moser; Stefan Haas; Ulf Gurok; Sebastian Haesler; Beatriz Aranda; Arpik Nshedjan; Andreas Tzschach; Nils Hartmann; Tim-Christoph Roloff; Sarah Shoichet; Olivier Hagens; Jiong Tao; Hans Van Bokhoven; Gillian Turner; Jamel Chelly; Claude Moraine; Jean-Pierre Fryns; Ulrike Nuber; Maria Hoeltzenbein; Constance Scharff; Harry Scherthan; Steffen Lenzner; Ben C J Hamel; Susann Schweiger; Hans-Hilger Ropers
Journal:  Nat Genet       Date:  2003-11-23       Impact factor: 38.330

7.  Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Authors:  Sibel Kantarci; Lihadh Al-Gazali; R Sean Hill; Dian Donnai; Graeme C M Black; Eric Bieth; Nicolas Chassaing; Didier Lacombe; Koen Devriendt; Ahmad Teebi; Maria Loscertales; Caroline Robson; Tianming Liu; David T MacLaughlin; Kristin M Noonan; Meaghan K Russell; Christopher A Walsh; Patricia K Donahoe; Barbara R Pober
Journal:  Nat Genet       Date:  2007-07-15       Impact factor: 38.330
  7 in total
  6 in total

1.  The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neurons.

Authors:  Yoshiho Ikeuchi; Luis de la Torre-Ubieta; Takahiko Matsuda; Hanno Steen; Hitoshi Okazawa; Azad Bonni
Journal:  Cell Rep       Date:  2013-08-29       Impact factor: 9.423

2.  Divergence and inheritance of neocortical heterotopia in inbred and genetically-engineered mice.

Authors:  Alyssa R Toia; Joshua A Cuoco; Anthony W Esposito; Jawad Ahsan; Alok Joshi; Bruce J Herron; German Torres; Valerie J Bolivar; Raddy L Ramos
Journal:  Neurosci Lett       Date:  2016-12-18       Impact factor: 3.046

Review 3.  PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity.

Authors:  Hikari Tanaka; Hitoshi Okazawa
Journal:  Int J Mol Sci       Date:  2022-06-02       Impact factor: 6.208

Review 4.  Cerebral cortex expansion and folding: what have we learned?

Authors:  Virginia Fernández; Cristina Llinares-Benadero; Víctor Borrell
Journal:  EMBO J       Date:  2016-04-07       Impact factor: 11.598

Review 5.  Periventricular Heterotopia: Shuttling of Proteins through Vesicles and Actin in Cortical Development and Disease.

Authors:  Volney L Sheen
Journal:  Scientifica (Cairo)       Date:  2012-10-22

6.  In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells.

Authors:  H Ito; H Shiwaku; C Yoshida; H Homma; H Luo; X Chen; K Fujita; L Musante; U Fischer; S G M Frints; C Romano; Y Ikeuchi; T Shimamura; S Imoto; S Miyano; S-i Muramatsu; T Kawauchi; M Hoshino; M Sudol; A Arumughan; E E Wanker; T Rich; C Schwartz; F Matsuzaki; A Bonni; V M Kalscheuer; H Okazawa
Journal:  Mol Psychiatry       Date:  2014-07-29       Impact factor: 15.992
  6 in total

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