(Q35534727)

8 August 2017

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings (English)

1 reference

8 August 2017

22

1 reference

8 August 2017

Lorenzo Ferri

6

0 references

Rossella Parini

Rossella Parini

9

0 references

Elena Fontana

Elena Fontana

14

0 references

Amelia Morrone

Amelia Morrone

32

0 references

Adele D'Amico

Adele d'Amico

20

0 references

Cristina Cereda

Cristina Cereda

17

0 references

Carlo Dionisi-Vici

Carlo Dionisi-Vici

18

0 references

Roberta Battini

Roberta Battini

11

0 references

Renzo Guerrini

30

Renzo Guerrini

1 reference

8 August 2017

29

Elisabetta Pasquini

1 reference

8 August 2017

27

Federica Ciani

1 reference

8 August 2017

Anna Caciotti

1

1 reference

8 August 2017

Scott C Garman

2

1 reference

8 August 2017

Yadilette Rivera-Colón

3

1 reference

8 August 2017

Elena Procopio

4

1 reference

8 August 2017

Serena Catarzi

5

1 reference

8 August 2017

Carmen Guido

7

1 reference

8 August 2017

Paola Martelli

8

1 reference

8 August 2017

Daniela Antuzzi

10

1 reference

8 August 2017

Michela Sibilio

12

1 reference

8 August 2017

Alessandro Simonati

13

1 reference

8 August 2017

Alessandro Salviati

15

1 reference

8 August 2017

Gulcin Akinci

16

1 reference

8 August 2017

Francesca Deodato

19

1 reference

8 August 2017

Alessandra d'Azzo

21

1 reference

8 August 2017

Mirella Filocamo

23

1 reference

8 August 2017

Maurizio Scarpa

24

1 reference

8 August 2017

Maja di Rocco

25

1 reference

8 August 2017

Cynthia J Tifft

26

1 reference

8 August 2017

Serena Gasperini

28

1 reference

8 August 2017

Maria Alice Donati

31

1 reference

8 August 2017

language of work or name

English

0 references

publication date

7 April 2011

1 reference

Biochimica et Biophysica Acta

8 August 2017

1 reference

8 August 2017

1812

1 reference

8 August 2017

7

1 reference

8 August 2017

782-790

1 reference

Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Trp/Met/Phe hot spots in protein-protein interactions: potential targets in drug design

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Dystonia and parkinsonism in GM1 type 3 gangliosidosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

The atomic structure of protein-protein recognition sites

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Incidence of the mucopolysaccharidoses in Northern Ireland

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Identification of Glu-268 as the catalytic nucleophile of human lysosomal beta-galactosidase precursor by mass spectrometry

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Biological roles of the non-integrin elastin/laminin receptor

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Human beta-galactosidase gene mutations in morquio B disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

MR imaging findings in 2 cases of late infantile GM1 gangliosidosis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Residue frequencies and pairing preferences at protein-protein interfaces.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

Structural bases of GM1 gangliosidosis and Morquio B disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3210552

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

15 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up

1 reference

12 December 2020

Incidence of the mucopolysaccharidoses in Western Australia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1016/J.BBADIS.2011.03.018

Identifiers

DOI

1 reference

8 August 2017

1 reference

8 August 2017

1 reference