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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. Expand
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Points of consensus among experts in the diagnosis and treatment of NP-C are reported based on a follow-up meeting in Paris, France in September 2011, providing further information on detection/diagnostic methods, potential new methods of monitoring disease progression, and therapy. Expand
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. Expand
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
This is the first agent studied in NPC for which there is both animal and clinical data supporting a disease modifying benefit, and miglustat improves or stabilises several clinically relevant markers of NPC. Expand
Recommendations on the diagnosis and management of Niemann-Pick disease type C.
This commentary reviews current literature on key aspects of the clinical management of NP-C in children, juveniles and adults, and provides recommendations based on consensus between the experts at the meeting. Expand
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. Expand
PART 16 : LYSOSOMAL DISORDERS Chapter 145 : Niemann-Pick Disease Type C : A Lipid Trafficking Disorder
1. Niemann-Pick disease type C (NP-C) is an autosomal recessive lipidosis with protean clinical manifestations, distinguished biochemically by a unique error in cellular trafficking of exogenousExpand
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. Expand
The pathophysiology and mechanisms of NP-C disease.
The molecular isolation of NPC1 and NPC2, the genes defective in patients with Niemann-Pick disease type C (NP-C), has heralded in an exponential increase in our understanding of this syndrome andExpand
Neurological aspects of human glycosylation disorders.
The principles of glycosylation are presented, the relevant glyCosylation pathways and their related disorders are described, and some of the neurological aspects and issues that continue to challenge researchers are highlighted. Expand