(Q34381697)

English

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome (English)

1 reference

Europe PubMed Central

1 August 2017

microcytic anemia

1 reference

based on heuristic

inferred from title

Ana Berta Sousa

object named as

Ana Berta Sousa

6

0 references

Laura E Martínez-Garza

object named as

Laura Martínez de Villarreal

7

0 references

object named as

Chao Xing

2

0 references

author name string

Anil K Agarwal

1

1 reference

Europe PubMed Central

1 August 2017

George N DeMartino

3

1 reference

Europe PubMed Central

1 August 2017

Dario Mizrachi

4

1 reference

Europe PubMed Central

1 August 2017

Maria Dolores Hernandez

5

1 reference

Europe PubMed Central

1 August 2017

Heloísa G dos Santos

8

1 reference

Europe PubMed Central

1 August 2017

Abhimanyu Garg

9

1 reference

Europe PubMed Central

1 August 2017

language of work or name

0 references

publication date

1 December 2010

1 reference

Europe PubMed Central

1 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

1 August 2017

87

1 reference

Europe PubMed Central

1 August 2017

6

1 reference

Europe PubMed Central

1 August 2017

866-872

1 reference

Europe PubMed Central

1 August 2017

Computational analysis and modeling of cleavage by the immunoproteasome and the constitutive proteasome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis

1 reference

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6 July 2018

An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Critical role for the immunoproteasome subunit LMP7 in the resistance of mice to Toxoplasma gondii infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

A systematic approach to mapping recessive disease genes in individuals from outbred populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

The Amber biomolecular simulation programs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

The 1.9 A structure of a proteasome-11S activator complex and implications for proteasome-PAN/PA700 interactions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Proteasome function in antigen presentation: immunoproteasome complexes, Peptide production, and interactions with viral proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Force fields for protein simulations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Analysis of Drosophila 26 S proteasome using RNA interference

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Discrete cleavage motifs of constitutive and immunoproteasomes revealed by quantitative analysis of cleavage products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Antigen processing by the proteasome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Interferon gamma regulates accumulation of the proteasome activator PA28 and immunoproteasomes at nuclear PML bodies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

The catalytic sites of 20S proteasomes and their role in subunit maturation: a mutational and crystallographic study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Main-chain bond lengths and bond angles in protein structures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Peptidase activities of proteasomes are differentially regulated by the major histocompatibility complex-encoded genes for LMP2 and LMP7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

Assessment of protein models with three-dimensional profiles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

6 July 2018

A selective inhibitor of the immunoproteasome subunit LMP7 blocks cytokine production and attenuates progression of experimental arthritis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

27 October 2018

Immunoproteasome-deficient mice mount largely normal CD8+ T cell responses to lymphocytic choriomeningitis virus infection and DNA vaccination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

27 October 2018

Structure determination of the constitutive 20S proteasome from bovine liver at 2.75 A resolution.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

27 October 2018

An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper gamma-globulinemia: peculiar vascular changes and muscle fiber degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997366

27 October 2018

[A case of partial lipodystrophy with erythema, dactylic deformities, calcification of the basal ganglia, immunological disorders and low IQ level (author's transl)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/21129723

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Sibling cases with lipodystrophic skin change, muscular atrophy, recurrent skin eruptions, and deformities and contractures of the joints. A possible new clinical entity]

1 reference

https://pubmed.ncbi.nlm.nih.gov/21129723

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MHC class I expression in mice lacking the proteasome subunit LMP-7

1 reference

https://pubmed.ncbi.nlm.nih.gov/21129723

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.10.031

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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