(Q46049236)

English

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma (English)

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Nadia Chuzhanova

2

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

7

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

David N. Cooper

19

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

author name string

Emanuele Persichetti

1

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Andrea Dardis

3

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Barbara Tappino

4

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Sandra Pohl

5

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Nick S T Thomas

6

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Chiara Balducci

8

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Silvia Paciotti

9

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Silvia Dominissini

10

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Anna Lisa Montalvo

11

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Michela Sibilio

12

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Rossella Parini

13

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Miriam Rigoldi

14

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Maja Di Rocco

15

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Giancarlo Parenti

16

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Aldo Orlacchio

17

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Bruno Bembi

18

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Mirella Filocamo

20

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Tommaso Beccari

21

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

publication date

1 June 2009

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

30

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

6

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

978-984

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Breakpoints of gross deletions coincide with non-B DNA conformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. II. Enzymatic characterization and identification of the catalytic subunit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis of the GlcNac-1-phosphotransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular order in mucolipidosis II and III nomenclature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection and evaluation of intron retention events in the human transcriptome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

On the complexity measures of genetic sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Context of deletions and insertions in human coding sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Trafficking of lysosomal enzymes in normal and disease states

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Variation in sequence and organization of splicing regulatory elements in vertebrate genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20959

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20959

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/19370764

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q46049236&oldid=2089386774"