Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria (Q35127028)

6 August 2017

Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria (English)

1 reference

Solute carrier family 25 member 37

6 August 2017

1 reference

GOA release 2020-03-11

author name string

Yongming Wang

1

1 reference

6 August 2017

Nathaniel B Langer

2

1 reference

6 August 2017

George C Shaw

3

1 reference

6 August 2017

Guang Yang

4

1 reference

6 August 2017

Liangtao Li

5

1 reference

6 August 2017

Jerry Kaplan

6

1 reference

6 August 2017

Barry H Paw

7

1 reference

6 August 2017

Joseph R Bloomer

8

1 reference

6 August 2017

language of work or name

1 reference

11 May 2011

1 reference

6 August 2017

Experimental Hematology

1 reference

6 August 2017

39

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6 August 2017

7

1 reference

6 August 2017

784-794

1 reference

Ferrochelatase forms an oligomeric complex with mitoferrin-1 and Abcb10 for erythroid heme biosynthesis

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Expansion of the eukaryotic proteome by alternative splicing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Abcb10 physically interacts with mitoferrin-1 (Slc25a37) to enhance its stability and function in the erythroid mitochondria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Erythropoietic protoporphyria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Regulation of mitochondrial iron import through differential turnover of mitoferrin 1 and mitoferrin 2

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Transport proteins (carriers) of mitochondria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Regulated Fox-2 isoform expression mediates protein 4.1R splicing during erythroid differentiation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Pre-mRNA splicing and retinitis pigmentosa

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate haem synthesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Heme-regulated eIF2alpha kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and beta-thalassemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Ferrochelatase at the millennium: structures, mechanisms and [2Fe-2S] clusters

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Protoporphyrin-induced cholestasis in the isolated in situ perfused rat liver

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Protoporphyrin metabolic balance in human protoporphyria.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Molecular and cellular mechanisms of porphyrin photosensitization.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Mitoferrin is essential for erythroid iron assimilation

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Liver transplantation for erythropoietic protoporphyria liver disease.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Nonsense-mediated decay approaches the clinic

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

A mitochondrial-vacuolar signaling pathway in yeast that affects iron and copper metabolism

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Erythropoietic protoporphyria: evidence for multiple sites of excess protoporphyrin formation

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Altered body iron distribution and microcytosis in mice deficient in iron regulatory protein 2 (IRP2)

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143264

Regulation of the expression of human ferrochelatase by intracellular iron levels

16 November 2018

1 reference

12 December 2020

Vascular changes in erythropoietic protoporphyria: histopathologic and immunohistochemical study

1 reference

12 December 2020

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

1 reference

12 December 2020

An ultrastructural study of the liver in erythropoietic protoporphyria

1 reference

12 December 2020

Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease

1 reference

12 December 2020

Hepatic disease in erythropoietic protoporphyria

1 reference

12 December 2020

Diminished erythroid ferrochelatase activity in protoporphyria

1 reference

12 December 2020

Hepatobiliary implications and complications in protoporphyria, a 20-year study

1 reference

12 December 2020

Early involvement of hepatic parenchymal cells in erythrohepatic protoporphyria? An ultrastructural study of patients with and without overt liver disease and the effect of chenodeoxycholic acid treatment

1 reference

12 December 2020

Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria

1 reference

12 December 2020

Examination of ferrochelatase mutations that cause erythropoietic protoporphyria

1 reference

12 December 2020

Biliary fibrosis associated with altered bile composition in a mouse model of erythropoietic protoporphyria

1 reference

12 December 2020

Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria

1 reference

12 December 2020

10.1016/J.EXPHEM.2011.05.003

Identifiers

DOI

1 reference

6 August 2017

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6 August 2017

1 reference