Document Detail

Hermansky-Pudlak Syndrome: Pigmentary and Non-pigmentary Defects and Their Pathogenesis.
MedLine Citation:
PMID:  23171219     Owner:  NLM     Status:  Publisher    
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive and genetically heterogeneous disorder characterized by oculocutaneous albinism, bleeding tendency and ceroid deposition which likely leads to deleterious lesions in lung, heart and other organs. Currently, 9 genes have been identified as causative for HPS in humans. Their pathological effects are attributable to the disrupted biogenesis of lysosome-related organelles (LROs) existing in multiple cell types or tissues, causing the pigmentory and non-pigmentory defects. This review focuses on the functional aspects of HPS genes in regulating LRO biogenesis and signal transduction. The understanding of these mechanisms expands our knowledge of the involvement of lysosomal trafficking in the targeting of cargoes for constitutive transport, degradation and secretion. This opens an avenue to the pathogenesis of lysosomal trafficking disorders at the cellular and developmental levels. © 2012 John Wiley & Sons A/S.
Ai-Hua Wei; Wei Li
Related Documents :
8870759 - Raeder's paratrigeminal syndrome: a case report.
8717819 - Intensive care syndrome: a literature review.
18296009 - Gradenigo's syndrome.
16651239 - Acquired von willebrand syndrome in a patient with ewing sarcoma.
8484399 - 18q-mosaicism associated with rett syndrome phenotype.
20465619 - Vohwinkel syndrome: treatment of pseudo-ainhum.
21232889 - Rett syndrome: the state of clinical and basic research, and future perspectives.
23482249 - Multiple endocrine neoplasia type 1 with upper gastrointestinal hemorrhage and perforat...
20205799 - Partial-thickness macular hole in vitreomacular traction syndrome: a case report and re...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-21
Journal Detail:
Title:  Pigment cell & melanoma research     Volume:  -     ISSN:  1755-148X     ISO Abbreviation:  Pigment Cell Melanoma Res     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101318927     Medline TA:  Pigment Cell Melanoma Res     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 John Wiley & Sons A/S.
Department of Dermatology, Beijing Tongren Affiliated Hospital of Capital Medical University, Beijing, 100730, China; State Key Laboratory of Molecular Developmental Biology, Institute of Genetics & Developmental Biology, Chinese Academy of Sciences, Beijing, 100101, China.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Transcriptional and metabolomic analysis of Ascophyllum nodosum mediated freezing tolerance in Arabi...
Next Document:  Competition on productivity gradients - what do we expect?