(Q46906437)

26 December 2017

title

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. (English)

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26 December 2017

limb-girdle muscular dystrophy

main subject

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7

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26 December 2017

Giulio Piluso

object named as

Giulio Piluso

4

0 references

author name string

Valentina Saccone

1

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26 December 2017

Michela Palmieri

2

1 reference

26 December 2017

Luigia Passamano

3

1 reference

26 December 2017

Germana Meroni

5

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26 December 2017

Luisa Politano

6

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26 December 2017

publication date

1 February 2008

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26 December 2017

published in

Human Mutation

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26 December 2017

volume

29

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26 December 2017

issue

2

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26 December 2017

page(s)

240-247

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26 December 2017

Mutations in the beta-propeller domain of the Drosophila brain tumor (brat) protein induce neoplasm in the larval brain.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Human laminopathies: nuclei gone genetically awry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

The PML-RARα fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Model of the brain tumor-Pumilio translation repressor complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Cloning and characterization of a novel RING finger protein that interacts with class V myosins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Muscular dystrophy into the new millennium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Identification of a novel human zinc finger protein that specifically interacts with the activation domain of lentiviral Tat proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Characterization of a Zinc Finger Gene Disrupted by the t(15;17) in Acute Promyelocytic Leukemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

A RING finger motif regulates transforming activity of the rfp/ret fusion gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

RING protein Trim32 associated with skin carcinogenesis has anti-apoptotic and E3-ubiquitin ligase properties

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Efp as a primary estrogen-responsive gene in human breast cancer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

RING finger proteins: mediators of ubiquitin ligase activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Making optimal use of empirical energy functions: force-field parameterization in crystal space

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

TRIM/RBCC, a novel class of 'single protein RING finger' E3 ubiquitin ligases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Low prevalence of psychoses among the Hutterites, an isolated religious community.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

The laminopathies: a clinical review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

The tripartite motif family identifies cell compartments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Autosomal recessive muscular dystrophy in Manitoba Hutterites*

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Muscular dystrophy in Saskatchewan Hutterites.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

A novel repeat domain that is often associated with RING finger and B-box motifs.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

The childhood limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Two B or not two B? Overview of the rapidly expanding B-box family of proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20633

7 January 2021

Identifiers

DOI

10.1002/HUMU.20633

1 reference

26 December 2017

PubMed ID

17994549

1 reference

26 December 2017