(Q37182112)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

review article

1 reference

title

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author

Nicola Brunetti-Pierri

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author name string

Fernando Scaglia

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

publication date

3 June 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

8 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

volume

94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

page(s)

391-396

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

Generalized gangliosidosis: beta-galactosidase deficiency.

8 January 2020

cites work

1 reference

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Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

7 January 2021

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Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism

7 January 2021

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High frequency of type 1 GM1 gangliosidosis in southern Brazil

7 January 2021

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Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

7 January 2021

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Infantile generalized GM1 gangliosidosis: high incidence in the Maltese Islands

7 January 2021

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The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village

7 January 2021

1 reference

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GM1-gangliosidosis: Accumulation of ganglioside GM1 in cultured skin fibroblasts and correlation with clinical types

7 January 2021

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Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies

7 January 2021

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Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases

7 January 2021

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Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

7 January 2021

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GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis

7 January 2021

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Gangliosides as apoptotic signals in ER stress response

7 January 2021

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The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction.

7 January 2021

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Abnormalities of developing white matter in lysosomal storage diseases

7 January 2021

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Dysmyelinogenesis in animal model of GM1 gangliosidosis

7 January 2021

1 reference

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Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis

7 January 2021

1 reference

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Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis

7 January 2021

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Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis

7 January 2021

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Is there a relationship between extensive mongolian spots and inborn errors of metabolism?

7 January 2021

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Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1.

7 January 2021

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Normal serum beta-galactosidase in juvenile GM1 gangliosidosis

7 January 2021

1 reference

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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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

A common mutation site in the beta-galactosidase gene originates in Puerto Rico

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Clinical and molecular analysis of a Japanese boy with Morquio B disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

GM1-gangliosidosis: tandem duplication within exon 3 of β-galactosidase gene in an infantile patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

GM1 gangliosidosis type 3 with severe jaw-closing impairment

7 January 2021

1 reference

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Dystonia and parkinsonism in GM1 type 3 gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Adult GM1 gangliosidosis: immunohistochemical and ultrastructural findings in an autopsy case

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Beta-galactosidase-deficient mouse as an animal model for GM1-gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Bone marrow transplantation correcting beta-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Attenuation of ganglioside GM1 accumulation in the brain of GM1 gangliosidosis mice by neonatal intravenous gene transfer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Complete correction of enzymatic deficiency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated virus-mediated gene delivery

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Increased concentration of GM1-ganglioside in cerebrospinal fluid in dogs with GM1- and GM2-gangliosidoses and its clinical application for diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.04.012

10.1016/J.YMGME.2008.04.012

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18524657%20AND%20SRC:MED&resulttype=core&format=json

release_sbzxlphbz5cohfasplv3w5n7au

8 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/sbzxlphbz5cohfasplv3w5n7au

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference