Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. (Q54783670)

3 June 2018

title

Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. (English)

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3 June 2018

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Anna Caciotti

1

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3 June 2018

Tiziana Bardelli

2

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3 June 2018

John Cunningham

3

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3 June 2018

Alessandra D'Azzo

4

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3 June 2018

Enrico Zammarchi

5

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3 June 2018

Amelia Morrone

6

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3 June 2018

publication date

19 March 2003

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3 June 2018

published in

Human Genetics

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3 June 2018

volume

113

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3 June 2018

issue

1

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3 June 2018

page(s)

44-50

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3 June 2018

Processing of lysosomal beta-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme

cites work

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12 December 2020

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases

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12 December 2020

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

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12 December 2020

Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology

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12 December 2020

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

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12 December 2020

Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).

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12 December 2020

Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis

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12 December 2020

GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients

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12 December 2020

Elastic-fiber pathologies: primary defects in assembly-and secondary disorders in transport and delivery

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12 December 2020

The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study

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12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

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12 December 2020

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

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12 December 2020

Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis

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12 December 2020

Signaling pathways transduced through the elastin receptor facilitate proliferation of arterial smooth muscle cells

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12 December 2020

Elastin binds to a multifunctional 67-kilodalton peripheral membrane protein

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12 December 2020

Nomenclature for the description of human sequence variations

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12 December 2020

Effects of double amino-acid substitution polymorphism in acid beta-galactosidase gene in two inbred strains of mice

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12 December 2020

Cloning, sequencing, and expression of cDNA for human beta-galactosidase

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12 December 2020

Organization of the gene encoding human lysosomal beta-galactosidase

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The HUGO Gene Nomenclature Committee (HGNC).

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12 December 2020

Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

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12 December 2020

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

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12 December 2020

Protein measurement with the Folin phenol reagent

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12 December 2020

Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.

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12 December 2020

beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Biological roles of the non-integrin elastin/laminin receptor

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12 December 2020

10.1007/S00439-003-0930-8

Identifiers

DOI

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3 June 2018

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3 June 2018