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Gamma-Secretase Subunit PEN-2

Known as: Hematopoietic Stem/Progenitor Cells Protein MDS033, PSENEN, Presenilin Enhancer Protein 2 
Gamma-secretase subunit PEN-2 (101 aa, ~12 kDa) is encoded by the human PSENEN gene. This protein plays a role in Notch protein cleavage and signal… 
National Institutes of Health

Related topics

Related topics

11 relations
Alzheimer's Disease Pathway KEGGApoptosisGenes, RegulatorIntegral Membrane Proteins

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
A phenotype combining hidradenitis suppurativa with Dowling–Degos disease caused by a founder mutation in PSENEN
Dowling–Degos disease (DDD), featuring reticulate pigmentation, and familial hidradenitis suppurativa (HS) share many clinical… 
Highly Cited
2017
Highly Cited
2017
Mutations in &ggr;-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5… 
Highly Cited
2014
Highly Cited
2014
Pro-osteogenic topographical cues promote early activation of osteoprogenitor differentiation via enhanced TGFβ, Wnt, and Notch signaling.
OBJECTIVES Titanium implant surfaces with modified topographies have improved osteogenic properties in vivo. However, the… 
Review
2013
Review
2013
γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.
Hidradenitis suppurativa (HS) is a debilitating chronic inflammatory skin condition of unclear etiology. It may segregate as an… 
Highly Cited
2013
Highly Cited
2013
Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases
Nuclear respiratory factor 1 (NRF1) serves as a transcription factor that activates the expression of a wide range of nuclear… 
2013
2013
Absence of pathogenic γ‐secretase mutations in a South Wales cohort of familial and sporadic hidradenitis suppurativa (acne inversa)
Loss-of-function mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 have recently been reported to underlie a subset of… 
Highly Cited
2012
Highly Cited
2012
Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa).
TO THE EDITOR Hidradenitis suppurativa (HS; OMIM1 42690) is a chronic inflammatory skin disease that presents with nodules, cysts… 
Highly Cited
2011
Highly Cited
2011
Two novel mutations of the nicastrin gene in Chinese patients with acne inversa
Acne inversa (AI, OMIM 142690), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent and debilitating skin… 
2010
2010
γ-Secretase and Human Disease
The role of an enzyme in disease pathogenesis extends beyond Alzheimer's disease to a skin disorder. The suspected culprit in… 
2007
2007
Abeta42 overproduction associated with structural changes in the catalytic pore of gamma-secretase: common effects of Pen-2 N-terminal elongation and fenofibrate.
gamma-Secretase is an atypical aspartyl protease that cleaves amyloid beta-precursor protein to generate Abeta peptides that are… 
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