Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking.
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Pompe disease diagnosis and management guideline
In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
Recommendations on the diagnosis and management of Niemann-Pick disease type C.
PART 16 : LYSOSOMAL DISORDERS Chapter 145 : Niemann-Pick Disease Type C : A Lipid Trafficking Disorder
The true prevalence of Niemann-Pick disease type C has been underestimated because of confusing terminology, the lack of a definitive diagnostic test prior to the discovery of the abnormalities of cellular cholesterol processing, and failure to recognize the clinical phenotypes.
Identification of 58 novel mutations in Niemann‐Pick disease type C: Correlation with biochemical phenotype and importance of PTC1‐like domains in NPC1
Mutation analysis on samples from 143 unrelated affected NPC patients is described using conformation sensitive gel electrophoresis and DNA sequencing as the primary mutation screening methods for NPC1 and NPC2, respectively, which raise the possibilities of an additional NPC complementation group(s) or non‐specificity of the biochemical testing for NPC.
The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo*
It is concluded that a distinctive organelle containing NPC1 mediates retrograde lysosomal transport of endocytosed cargo that is not restricted to sterol.
Consensus clinical management guidelines for Niemann-Pick disease type C
Clinical guidelines that define standard of care for NPC patients, foster shared care arrangements between expert centres and family physicians, and empower patients are developed that can inform care providers, care funders, patients and their carers of best practice of care.