(Q24314756)

English

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response

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scholarly article

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IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response (English)

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Membrane bound transcription factor peptidase, site 2

1 reference

GOA release 2020-03-11

author name string

Frank Oeffner

1

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Gayle Fischer

2

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Rudolf Happle

3

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Arne König

4

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Regina C Betz

5

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Dorothea Bornholdt

6

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Ulrike Neidel

7

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María del Carmen Boente

8

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Silke Redler

9

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Javier Romero-Gomez

10

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Aïcha Salhi

11

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Angel Vera-Casaño

12

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Christian Weirich

13

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Karl-Heinz Grzeschik

14

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language of work or name

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publication date

April 2009

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American Journal of Human Genetics

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84

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4

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459-67

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Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

19 March 2017

CREB4, a transmembrane bZip transcription factor and potential new substrate for regulation and cleavage by S1P.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

19 March 2017

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

19 March 2017

ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

19 March 2017

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

19 March 2017

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

19 March 2017

Basis for abnormal desquamation and permeability barrier dysfunction in RXLI

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

19 March 2017

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=2667992

19 March 2017

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

19 March 2017

Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

19 March 2017

Sterol-regulated release of SREBP-2 from cell membranes requires two sequential cleavages, one within a transmembrane segment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

19 March 2017

Endoplasmic reticulum stress: signaling the unfolded protein response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

27 September 2017

Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

27 September 2017

Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

27 September 2017

Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

27 September 2017

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

27 September 2017

Nuclear protein that binds sterol regulatory element of low density lipoprotein receptor promoter. I. Identification of the protein and delineation of its target nucleotide sequence.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

27 September 2017

Somatic cell genetic and biochemical characterization of cell lines resulting from human genomic DNA transfections of Chinese hamster ovary cell mutants defective in sterol-dependent activation of sterol synthesis and LDL receptor expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

27 September 2017

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

29 November 2018

Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

29 November 2018

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667992

29 November 2018

Ichthyosis follicularis with alopecia and photophobia in a mother and daughter

1 reference

https://pubmed.ncbi.nlm.nih.gov/19361614

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/19361614

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

What is IFAP syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/19361614

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19361614

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia)

1 reference

https://pubmed.ncbi.nlm.nih.gov/19361614

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/19361614

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2009.03.014

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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