Literature DB >> 16783568

The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients.

Volkan Seyrantepe1, Frédérique Tihy, Alexey V Pshezhetsky.   

Abstract

The candidate gene for Mucopolysaccharidosis (MPS) type IIIC has been localized to the pericentric region of the chromosome 8 by the linkage disequilibrium analysis. To validate the localization of the gene, we rescued the deficient acetyl-coenzyme A: alpha-glucosaminide-N-acetylytransferase activity in the cultured cells of MPS IIIC patients by functional complementation via microcell-mediated chromosome transfer. The introduction of the target human monochromosome completely restored the activity confirming functional localization of the candidate gene on human chromosome 8.

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Year:  2006        PMID： 16783568     DOI： 10.1007/s00439-006-0211-4

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  9 in total

1.  Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC.

Authors:  J Zaremba; W J Kleijer; J G Huijmans; B Poorthuis; E Fidzianska; I Glogowska
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

2.  A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.

Authors:  M M Bradford
Journal:  Anal Biochem       Date:  1976-05-07       Impact factor: 3.365

3.  Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8.

Authors:  J Ausseil; J C Loredo-Osti; A Verner; C Darmond-Zwaig; I Maire; B Poorthuis; O P van Diggelen; T J Hudson; T M Fujiwara; K Morgan; A V Pshezhetsky
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

4.  Two species of lysosomal organelles in cultured human fibroblasts.

Authors:  L H Rome; A J Garvin; M M Allietta; E F Neufeld
Journal:  Cell       Date:  1979-05       Impact factor: 41.582

5.  Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts.

Authors:  H Lochmüller; T Johns; E A Shoubridge
Journal:  Exp Cell Res       Date:  1999-04-10       Impact factor: 3.905

6.  Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay.

Authors:  W He; J G Huijmans; G C Geilen; E A Karpova; T V Dudukina; J Zaremba; O P Van Diggelen; W J Kleijer
Journal:  Prenat Diagn       Date:  1994-01       Impact factor: 3.050

7.  Acetyl coenzyme A: alpha-glucosaminide N-acetyltransferase. Evidence for a transmembrane acetylation mechanism.

Authors:  K J Bame; L H Rome
Journal:  J Biol Chem       Date:  1985-09-15       Impact factor: 5.157

8.  Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C).

Authors:  J J van de Kamp; M F Niermeijer; K von Figura; M A Giesberts
Journal:  Clin Genet       Date:  1981-08       Impact factor: 4.438

9.  Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

Authors:  Hana Antonicka; Scot C Leary; Guy-Hellen Guercin; Jeffrey N Agar; Rita Horvath; Nancy G Kennaway; Cary O Harding; Michaela Jaksch; Eric A Shoubridge
Journal:  Hum Mol Genet       Date:  2003-08-19       Impact factor: 6.150
  9 in total
  3 in total

1.  Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Authors:  Martin Hrebícek; Lenka Mrázová; Volkan Seyrantepe; Stéphanie Durand; Nicole M Roslin; Lenka Nosková; Hana Hartmannová; Robert Ivánek; Alena Cízkova; Helena Poupetová; Jakub Sikora; Jana Urinovská; Viktor Stranecký; Jirí Zeman; Pierre Lepage; David Roquis; Andrei Verner; Jérome Ausseil; Clare E Beesley; Irène Maire; Ben J H M Poorthuis; Jiddeke van de Kamp; Otto P van Diggelen; Ron A Wevers; Thomas J Hudson; T Mary Fujiwara; Jacek Majewski; Kenneth Morgan; Stanislav Kmoch; Alexey V Pshezhetsky
Journal:  Am J Hum Genet       Date:  2006-09-08       Impact factor: 11.025

2.  Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

Authors:  Matthew Feldhammer; Stéphanie Durand; Alexey V Pshezhetsky
Journal:  PLoS One       Date:  2009-10-13       Impact factor: 3.240

3.  Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C.

Authors:  Alexey V Pshezhetsky
Journal:  Rare Dis       Date:  2015-05-21
  3 in total

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