PMID: 16538002Mar 16, 2006Paper

Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies

The Journal of Medical Investigation : JMI
Yutaka TatanoKohji Itoh

Abstract

The human GLB1 gene encodes a lysosomal beta-galactosidase (beta-Gal) and an elastin-binding protein (EBP). Defect of the EBP as a chaperon for tropoelastin and a component of receptor complex among neuraminidase-1 (NEU1) and protective protein/cathepsin A (PPCA) is suggested responsible for impaired elastogenesis in autosomal recessive beta-Gal, PPCA and NEU1 deficiencies. The purpose of this study is to determine effects of GLB1, PPCA and NEU1 gene mutations on elastogenesis in skin fibroblasts. Elastic fiber formation and the EBP mRNA expression were examined by immunofluorescence with an anti-tropoelastin antibody and RT-PCR selective for EBP in skin fibroblasts with these lysosomal enzyme deficiencies. Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject. In this study, the W273L substitution in the EBP could impossibly cause the proposed defect of elastogenesis, and the typical PPCA splicing mutation and the V217M/G243R...Continue Reading

References

Mar 1, 1976·Postgraduate Medical Journal·P F BensonT P Mann
Jun 1, 1977·Australian Paediatric Journal·J M Costello
Sep 1, 1991·DNA and Cell Biology·H MorreauA D'Azzo
Mar 25, 1988·Science·A HinekS H Barondes
Sep 1, 1986·The Journal of Cell Biology·H M KaganJ S Brody
May 1, 1986·The Journal of Pediatrics·J Charrow, M G Hvizd
Jan 1, 1987·Methods in Enzymology·R P Mecham
Jan 1, 1985·The Journal of Pediatrics·H RosenbergM Spence
Jul 1, 1981·Klinische Pädiatrie·E PronickaD Górska
Jun 1, 1994·Pediatric Neurology·N IshiiY Suzuki
Jun 1, 1993·The Journal of Clinical Investigation·M ShimmotoY Suzuki
Mar 15, 1996·American Journal of Medical Genetics·J M Costello
Aug 17, 2000·Journal of Human Genetics·Y NaganawaH Sakuraba
Sep 24, 2002·The Journal of Biological Chemistry·Satsuki MochizukiAleksander Hinek

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Citations

Dec 11, 2008·Journal of Bone and Mineral Metabolism·Masaaki MasuharaYoshiyuki Hakeda
Aug 12, 2008·American Journal of Physiology. Lung Cellular and Molecular Physiology·Barry StarcherAlexsander Hinek
Mar 6, 2012·Molecular Genetics and Metabolism·Anna LehmanAleksander Hinek
Apr 7, 2020·Clinical and Experimental Dental Research·Tomoyasu NoguchiKenichi Fukuda
Jun 22, 2019·Matrix Biology : Journal of the International Society for Matrix Biology·Amar BennasrouneLaurent Duca

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