Progerin

Jump to: navigation, search

WikiDoc Resources for Progerin

Articles

Most recent articles on Progerin

Most cited articles on Progerin

Review articles on Progerin

Articles on Progerin in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Progerin

Images of Progerin

Photos of Progerin

Podcasts & MP3s on Progerin

Videos on Progerin

Evidence Based Medicine

Cochrane Collaboration on Progerin

Bandolier on Progerin

TRIP on Progerin

Clinical Trials

Ongoing Trials on Progerin at Clinical Trials.gov

Trial results on Progerin

Clinical Trials on Progerin at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Progerin

NICE Guidance on Progerin

NHS PRODIGY Guidance

FDA on Progerin

CDC on Progerin

Books

Books on Progerin

News

Progerin in the news

Be alerted to news on Progerin

News trends on Progerin

Commentary

Blogs on Progerin

Definitions

Definitions of Progerin

Patient Resources / Community

Patient resources on Progerin

Discussion groups on Progerin

Patient Handouts on Progerin

Directions to Hospitals Treating Progerin

Risk calculators and risk factors for Progerin

Healthcare Provider Resources

Symptoms of Progerin

Causes & Risk Factors for Progerin

Diagnostic studies for Progerin

Treatment of Progerin

Continuing Medical Education (CME)

CME Programs on Progerin

International

Progerin en Espanol

Progerin en Francais

Business

Progerin in the Marketplace

Patents on Progerin

Experimental / Informatics

List of terms related to Progerin

Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [1] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

Progerin is a truncated version of lamin A protein involved in Hutchinson-Gilford progeria syndrome. Progerin is most often generated by a mutation (C1824T) in the lamin A gene, LMNA. This mutation activates a cryptic splice site and gives rise to a form of lamin A with a deletion of 50 amino acids.[1] Approximately 80% of Hutchinson-Gilford progeria syndrome cases carry a single copy of the most common mutation, a silent point mutation (G608G) within exon 11 of LMNA gene.[2]

Lamin A constitutes a major structural component of the lamina, a scaffold of proteins found inside the nuclear membrane of a cell; progerin does not properly integrate into the lamina, which disrupts the scaffold structure and leads to significant disfigurement of the nucleus, characterized by a lobular shape.[3] Researchers have shown that progerin activates genes that regulate stem cell differentiation via the Notch signaling pathway.[4]

Researchers are exploring farnesyltransferase inhibitors as a potential pharmacological therapy against the negative effects of progerin on nuclear morphology.[3]

Progerin, which has been linked to normal aging, is produced in healthy indivduals via "sporadic use of the cryptic splice site".[4][5]

References

  1. Eriksson M, Brown WT, Gordon LB; et al. (2003). "Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome". Nature. 423 (6937): 293–8. doi:10.1038/nature01629. PMID 12714972. Unknown parameter |month= ignored (help)
  2. McClintock D, Gordon LB, Djabali K (2006). "Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody". Proc. Natl. Acad. Sci. U.S.A. 103 (7): 2154–9. doi:10.1073/pnas.0511133103. PMC 1413759. PMID 16461887. Unknown parameter |month= ignored (help)
  3. 3.0 3.1 "Anti-cancer Drugs May Hold Promise For Premature Aging Disorder". Retrieved 2008-07-15.
  4. 4.0 4.1 Scaffidi P, Misteli T (2008). "Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing". Nat. Cell Biol. 10 (4): 452–9. doi:10.1038/ncb1708. PMC 2396576. PMID 18311132. Unknown parameter |month= ignored (help)
    "Adult stem cell changes underlie rare genetic disease associated with accelerated aging". Retrieved 2008-07-15.
  5. Liu B, Zhou Z (2008). "Lamin A/C, laminopathies and premature ageing". Histol. Histopathol. 23 (6): 747–63. PMID 18366013. Unknown parameter |month= ignored (help)

Cost Effectiveness of Progerin

| group5 = Clinical Trials Involving Progerin | list5 = Ongoing Trials on Progerin at Clinical Trials.govTrial results on ProgerinClinical Trials on Progerin at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Progerin | list6 = US National Guidelines Clearinghouse on ProgerinNICE Guidance on ProgerinNHS PRODIGY GuidanceFDA on ProgerinCDC on Progerin


| group7 = Textbook Information on Progerin | list7 = Books and Textbook Information on Progerin


| group8 = Pharmacology Resources on Progerin | list8 = AND (Dose)}} Dosing of ProgerinAND (drug interactions)}} Drug interactions with ProgerinAND (side effects)}} Side effects of ProgerinAND (Allergy)}} Allergic reactions to ProgerinAND (overdose)}} Overdose information on ProgerinAND (carcinogenicity)}} Carcinogenicity information on ProgerinAND (pregnancy)}} Progerin in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Progerin


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Progerin | list9 = AND (pharmacogenomics)}} Genetics of ProgerinAND (pharmacogenomics)}} Pharmacogenomics of ProgerinAND (proteomics)}} Proteomics of Progerin


| group10 = Newstories on Progerin | list10 = Progerin in the newsBe alerted to news on ProgerinNews trends on Progerin


| group11 = Commentary on Progerin | list11 = Blogs on Progerin

| group12 = Patient Resources on Progerin | list12 = Patient resources on ProgerinDiscussion groups on ProgerinPatient Handouts on ProgerinDirections to Hospitals Treating ProgerinRisk calculators and risk factors for Progerin


| group13 = Healthcare Provider Resources on Progerin | list13 = Symptoms of ProgerinCauses & Risk Factors for ProgerinDiagnostic studies for ProgerinTreatment of Progerin

| group14 = Continuing Medical Education (CME) Programs on Progerin | list14 = CME Programs on Progerin

| group15 = International Resources on Progerin | list15 = Progerin en EspanolProgerin en Francais

| group16 = Business Resources on Progerin | list16 = Progerin in the MarketplacePatents on Progerin

| group17 = Informatics Resources on Progerin | list17 = List of terms related to Progerin


}}



Linked-in.jpg