Literature DB >> 15024629

A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.

Mary E LaMarca1,2, Mona Goldstein1,2, Nahid Tayebi1,2, Mauricio Arcos-Burgos1, Brian M Martin3, Ellen Sidransky4,5.   

Abstract

The gene for glucocerebrosidase ( GBA), the enzyme deficient in Gaucher disease, is located in a gene-rich region on 1q21. Metaxin 1( MTX1) is a convergently transcribed gene contiguous to the 3' end of the GBA pseudogene. A single nucleotide alteration in MTX1, 628T-->C, resulting in the amino acid change F202L, was identified in patients with Gaucher disease in association with the common N370S mutation in GBA. The polymorphism was also present on 4.6% of 152 control alleles, but could have functional consequences that have a modifying role in Gaucher disease.

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Year:  2004        PMID： 15024629     DOI： 10.1007/s10038-004-0134-7

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  13 in total

Review 1.  Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.

Authors:  K M Dipple; E R McCabe
Journal:  Am J Hum Genet       Date:  2000-05-01       Impact factor: 11.025

Review 2.  Gaucher disease: Perspectives on a prototype lysosomal disease.

Authors:  H Zhao; G A Grabowski
Journal:  Cell Mol Life Sci       Date:  2002-04       Impact factor: 9.261

3.  Functional analysis of human metaxin in mitochondrial protein import in cultured cells and its relationship with the Tom complex.

Authors:  K M Abdul; K Terada; M Yano; M T Ryan; I Streimann; N J Hoogenraad; M Mori
Journal:  Biochem Biophys Res Commun       Date:  2000-10-05       Impact factor: 3.575

4.  Polymorphisms in the human glucocerebrosidase gene.

Authors:  E Beutler; C West; T Gelbart
Journal:  Genomics       Date:  1992-04       Impact factor: 5.736

5.  Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.

Authors:  A Zimran; T Gelbart; E Beutler
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

6.  Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.

Authors:  E K Lau; N Tayebi; L J Ingraham; S L Winfield; V Koprivica; D L Stone; A Zimran; E I Ginns; E Sidransky
Journal:  Hum Genet       Date:  1999-04       Impact factor: 4.132

7.  Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Authors:  V Koprivica; D L Stone; J K Park; M Callahan; A Frisch; I J Cohen; N Tayebi; E Sidransky
Journal:  Am J Hum Genet       Date:  2000-05-04       Impact factor: 11.025

8.  Structure and organization of the human metaxin gene (MTX) and pseudogene.

Authors:  G L Long; S Winfield; K W Adolph; E I Ginns; P Bornstein
Journal:  Genomics       Date:  1996-04-15       Impact factor: 5.736

9.  Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Authors:  Joseph K Park; Eduard Orvisky; Nahid Tayebi; Christine Kaneski; Mary E Lamarca; Barbara K Stubblefield; Brian M Martin; Raphael Schiffmann; Ellen Sidransky
Journal:  Pediatr Res       Date:  2003-03       Impact factor: 3.756

10.  Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease.

Authors:  P Bornstein; C E McKinney; M E LaMarca; S Winfield; T Shingu; S Devarayalu; H L Vos; E I Ginns
Journal:  Proc Natl Acad Sci U S A       Date:  1995-05-09       Impact factor: 11.205
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  3 in total

1.  Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease.

Authors:  Ziv Gan-Or; Anat Bar-Shira; Tanya Gurevich; Nir Giladi; Avi Orr-Urtreger
Journal:  Neurogenetics       Date:  2011-08-12       Impact factor: 2.660

Review 2.  Exploring genetic modifiers of Gaucher disease: The next horizon.

Authors:  Brad A Davidson; Shahzeb Hassan; Eric Joshua Garcia; Nahid Tayebi; Ellen Sidransky
Journal:  Hum Mutat       Date:  2018-09-11       Impact factor: 4.878

3.  Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.

Authors:  Yukinori Okada; Xueling Sim; Min Jin Go; Jer-Yuarn Wu; Dongfeng Gu; Fumihiko Takeuchi; Atsushi Takahashi; Shiro Maeda; Tatsuhiko Tsunoda; Peng Chen; Su-Chi Lim; Tien-Yin Wong; Jianjun Liu; Terri L Young; Tin Aung; Mark Seielstad; Yik-Ying Teo; Young Jin Kim; Jong-Young Lee; Bok-Ghee Han; Daehee Kang; Chien-Hsiun Chen; Fuu-Jen Tsai; Li-Ching Chang; S-J Cathy Fann; Hao Mei; Dabeeru C Rao; James E Hixson; Shufeng Chen; Tomohiro Katsuya; Masato Isono; Toshio Ogihara; John C Chambers; Weihua Zhang; Jaspal S Kooner; Eva Albrecht; Kazuhiko Yamamoto; Michiaki Kubo; Yusuke Nakamura; Naoyuki Kamatani; Norihiro Kato; Jiang He; Yuan-Tsong Chen; Yoon Shin Cho; E-Shyong Tai; Toshihiro Tanaka
Journal:  Nat Genet       Date:  2012-07-15       Impact factor: 38.330
  3 in total

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