Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. (Q24538703)

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English	Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.	scientific article

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scholarly article

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7 November 2019

Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase (English)

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7 November 2019

elastic fiber assembly

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Gene Ontology release 2020-05-02

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3

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7 November 2019

author name string

Hinek A

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7 November 2019

Zhang S

2

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7 November 2019

Callahan JW

4

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6 June 2000

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7 November 2019

American Journal of Human Genetics

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7 November 2019

67

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7 November 2019

1

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7 November 2019

23-36

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7 November 2019

Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

24 March 2017

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

24 March 2017

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

24 March 2017

Human beta-galactosidase gene mutations in morquio B disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

24 March 2017

Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

24 March 2017

Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

24 March 2017

The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

24 March 2017

Biological roles of the non-integrin elastin/laminin receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

24 March 2017

Nature and the multiple functions of the 67-kD elastin-/laminin binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

24 March 2017

Morquio B syndrome: a primary defect in beta-galactosidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

24 March 2017

Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

24 March 2017

Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

24 March 2017

Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Elastin: molecular description and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Identification of tropoelastin as a ligand for the 65-kD FK506-binding protein, FKBP65, in the secretory pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Extracellular matrix 4: the elastic fiber

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Molecular pathology of the elastic fibers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Fibrillin-containing microfibrils: Structure and function in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Elastin structure, biosynthesis, and relation to disease states

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

The changes in chemical composition during development of the bovine nuchal ligament

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Arterial involvement in genetic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Development of immunoreagents to ciliary zonules that react with protein components of elastic fiber microfibrils and with elastin-producing cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Ultrastructural immunolocalization of lysyl oxidase in vascular connective tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

The elastin receptor: a galactoside-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Ligand affinity of the 67-kD elastin/laminin binding protein is modulated by the protein's lectin domain: visualization of elastin/laminin-receptor complexes with gold-tagged ligands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Impaired elastin fiber assembly related to reduced 67-kD elastin-binding protein in fetal lamb ductus arteriosus and in cultured aortic smooth muscle cells treated with chondroitin sulfate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Canine GM1-gangliosidosis. A clinical, morphologic, histochemical, and biochemical comparison of two different models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

GM1-generalized gangliosidosis variant with cardiomegaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVB

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

27 September 2017

Elastic fiber during development and aging

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

Early proteolytic cleavage with loss of a C-terminal fragment underlies altered processing of the beta-galactosidase precursor in galactosialidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

67-kD elastin-binding protein is a protective "companion" of extracellular insoluble elastin and intracellular tropoelastin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

Kinetic mechanism and characterization of human beta-galactosidase precursor secreted by permanently transfected Chinese hamster ovary cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

Elastin exhibits a distinctive temporal and spatial pattern of distribution in the developing chick limb in association with the establishment of the cartilaginous skeleton

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

Recycling of the 67-kDa elastin binding protein in arterial myocytes is imperative for secretion of tropoelastin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

Quantitative cytochemistry of beta-galactosidase in normal and enzyme deficient (gal) pollen of Brassica campestris: application of the indigogenic method.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

The secretion of tropoelastin by chick-embryo artery cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

Purification and characterization of human liver beta-galactosidase from a patient with the adult form of GM1 gangliosidosis and a normal control

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

Polyclonal antibodies to tropoelastin and the specific detection and measurement of tropoelastin in vitro.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

Changes of Cellular Expression of mRNA for Tropoelastin in the Intraembryonic Arterial Vessels of Developing Chick Revealed by In Situ Hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

30 May 2018

Fibrillin: evidence that chondroitin sulphate proteoglycans are components of microfibrils and associate with newly synthesised monomers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

29 November 2018

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

29 November 2018

Cardiac lesions in a patient with familial neurovisceral lipidosis (generalized gangliosidosis).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

29 November 2018

Cardiac involvement in diseases characterized by beta-galactosidase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287082

29 November 2018

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/10841810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10841810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical adult GM1 gangliosidosis: biochemical comparison with other forms of primary beta-galactosidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10841810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders--clinical and echocardiographic findings in 64 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/10841810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemistry of tropoelastin

1 reference

https://pubmed.ncbi.nlm.nih.gov/10841810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elastin binds to a multifunctional 67-kilodalton peripheral membrane protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/10841810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Vascular smooth muscle cell detachment from elastin and migration through elastic laminae is promoted by chondroitin sulfate-induced "shedding" of the 67-kDa cell surface elastin binding protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/10841810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ductus arteriosus migratory smooth muscle cell phenotype processes tropoelastin to a 52-kDa product associated with impaired assembly of elastic laminae

1 reference

https://pubmed.ncbi.nlm.nih.gov/10841810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tropoelastin gene expression in the developing vascular system of the chicken: an in situ hybridization study

1 reference

https://pubmed.ncbi.nlm.nih.gov/10841810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retarded bone formation in GM1-gangliosidosis: a study of the infantile form and comparison with two canine models

1 reference

https://pubmed.ncbi.nlm.nih.gov/10841810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coronary intimal sclerosis in Morquio's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10841810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile cardiomyopathy and neuromyopathy with beta-galactosidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10841810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiomyopathy and skeletal myopathy in an unusual variant of GM1 gangliosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10841810

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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7 November 2019

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7 November 2019

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Europe PubMed Central

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7 November 2019

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