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Literature DB >> 10200300

Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.

D A Martin¹, L Zheng, R M Siegel, B Huang, G H Fisher, J Wang, C E Jackson, J M Puck, J Dale, S E Straus, M E Peter, P H Krammer, S Fesik, M J Lenardo.

Abstract

Heterozygous mutations in the CD95 (APO-1/Fas) receptor occur in most individuals with autoimmune lymphoproliferative syndrome (ALPS) and dominantly interfere with apoptosis by an unknown mechanism. We show that local or global alterations in the structure of the cytoplasmic death domain from nine independent ALPS CD95 death-domain mutations result in a failure to bind the FADD/MORT1 signaling protein. Despite heterozygosity for the abnormal allele, lymphocytes from ALPS patients showed markedly decreased FADD association and a loss of caspase recruitment and activation after CD95 crosslinking. These data suggest that intracytoplasmic CD95 mutations in ALPS impair apoptosis chiefly by disrupting death-domain interactions with the signaling protein FADD/MORT1.

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 1999 PMID： 10200300 PMCID： PMC16370 DOI： 10.1073/pnas.96.8.4552

Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205

38 in total

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2. The lymphoproliferation mutation in Fas locally unfolds the Fas death domain.

Authors: M Eberstadt; B Huang; E T Olejniczak; S W Fesik
Journal: Nat Struct Biol Date: 1997-12

Review 3. Portrait of an executioner: the molecular mechanism of FAS/APO-1-induced apoptosis.

Authors: A M Chinnaiyan; V M Dixit
Journal: Semin Immunol Date: 1997-02 Impact factor: 11.130

4. FLICE is activated by association with the CD95 death-inducing signaling complex (DISC).

Authors: J P Medema; C Scaffidi; F C Kischkel; A Shevchenko; M Mann; P H Krammer; M E Peter
Journal: EMBO J Date: 1997-05-15 Impact factor: 11.598

5. Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.

Authors: J Drappa; A K Vaishnaw; K E Sullivan; J L Chu; K B Elkon
Journal: N Engl J Med Date: 1996-11-28 Impact factor: 91.245

6. A combinatorial approach defines specificities of members of the caspase family and granzyme B. Functional relationships established for key mediators of apoptosis.

Authors: N A Thornberry; T A Rano; E P Peterson; D M Rasper; T Timkey; M Garcia-Calvo; V M Houtzager; P A Nordstrom; S Roy; J P Vaillancourt; K T Chapman; D W Nicholson
Journal: J Biol Chem Date: 1997-07-18 Impact factor: 5.157

7. Daxx, a novel Fas-binding protein that activates JNK and apoptosis.

Authors: X Yang; R Khosravi-Far; H Y Chang; D Baltimore
Journal: Cell Date: 1997-06-27 Impact factor: 41.582

8. CrmA expression in T lymphocytes of transgenic mice inhibits CD95 (Fas/APO-1)-transduced apoptosis, but does not cause lymphadenopathy or autoimmune disease.

Authors: K G Smith; A Strasser; D L Vaux
Journal: EMBO J Date: 1996-10-01 Impact factor: 11.598

9. Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.

Authors: M C Sneller; J Wang; J K Dale; W Strober; L A Middelton; Y Choi; T A Fleisher; M S Lim; E S Jaffe; J M Puck; M J Lenardo; S E Straus
Journal: Blood Date: 1997-02-15 Impact factor: 22.113

10. Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.

Authors: A Bettinardi; D Brugnoni; E Quiròs-Roldan; A Malagoli; S La Grutta; A Correra; L D Notarangelo
Journal: Blood Date: 1997-02-01 Impact factor: 22.113

51 in total

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Journal: Ann Rheum Dis Date: 2003-01 Impact factor: 19.103

2. Frequent deletion of Fas gene sequences encoding death and transmembrane domains in nasal natural killer/T-cell lymphoma.

Authors: Lijun Shen; Anthony C T Liang; Liwei Lu; Wing Yan Au; Yok-Lam Kwong; Raymond H S Liang; Gopesh Srivastava
Journal: Am J Pathol Date: 2002-12 Impact factor: 4.307

Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.

1. FLICE is predominantly expressed as two functionally active isoforms, caspase-8/a and caspase-8/b.

2. The lymphoproliferation mutation in Fas locally unfolds the Fas death domain.

Review 3. Portrait of an executioner: the molecular mechanism of FAS/APO-1-induced apoptosis.

4. FLICE is activated by association with the CD95 death-inducing signaling complex (DISC).

5. Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.

6. A combinatorial approach defines specificities of members of the caspase family and granzyme B. Functional relationships established for key mediators of apoptosis.

7. Daxx, a novel Fas-binding protein that activates JNK and apoptosis.

8. CrmA expression in T lymphocytes of transgenic mice inhibits CD95 (Fas/APO-1)-transduced apoptosis, but does not cause lymphadenopathy or autoimmune disease.

9. Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.

10. Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.

1. Defective waste disposal: does it induce autoantibodies in SLE?

2. Frequent deletion of Fas gene sequences encoding death and transmembrane domains in nasal natural killer/T-cell lymphoma.

Review 3. Death receptor signaling and autoimmunity.

Review 4. New approaches to investigating heterogeneity in complex traits.

5. Signaling active CD95 receptor molecules trigger co-translocation of inactive CD95 molecules into lipid rafts.

6. New take on comparative immunology: relevance to immunotherapy.

Review 7. Qa-1 restriction of CD8+ suppressor T cells.

Review 8. Death receptors and caspases: role in lymphocyte proliferation, cell death, and autoimmunity.

9. The technological transformation of patient-driven human immunology research.

10. Fas stimulation of T lymphocytes promotes rapid intercellular exchange of death signals via membrane nanotubes.