Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Marie T. Vanier,Paul Gissen,Paul Gissen,Peter Bauer,Maria Josep Coll,Alberto Burlina,Christian J. Hendriksz,Christian J. Hendriksz,Philippe Latour,Cyril Goizet,Richard W. D. Welford,Thorsten Marquardt,Stefan A. Kolb +12 more
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TLDR
Advances in mass spectrometry has allowed identification of several sensitive plasma biomarkers elevated in NP-C, which, together with the concomitant progress in molecular genetic technology, have greatly impacted the strategy of laboratory testing.About:
This article is published in Molecular Genetics and Metabolism.The article was published on 2016-08-01 and is currently open access. It has received 115 citations till now. The article focuses on the topics: Genetic testing & Late endosome.read more
Citations
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Journal ArticleDOI
Consensus clinical management guidelines for Niemann-Pick disease type C.
Tarekegn Geberhiwot,Alessandro Moro,Andrea Dardis,Uma Ramaswami,Sandra Sirrs,Mercedes Pineda Marfa,Marie T. Vanier,Mark Walterfang,Shaun Bolton,Charlotte Dawson,Bénédicte Héron,Miriam Stampfer,Jackie Imrie,Christian J. Hendriksz,Paul Gissen,Ellen Crushell,Maria Josep Coll,Yann Nadjar,Hans H. Klünemann,Eugen Mengel,M. Hrebicek,Simon Jones,Daniel S. Ory,Bruno Bembi,Marc C. Patterson +24 more
TL;DR: 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.
Journal ArticleDOI
Miglustat in Niemann-Pick disease type C patients: a review.
TL;DR: The effects of miglustat on neurological NP-C manifestations has been assessed using a range of approaches, with benefits ranging from cellular changes in the brain through to visible clinical improvements and improved survival.
Journal ArticleDOI
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update
Marc C. Patterson,Peter E. Clayton,Paul Gissen,Mathieu Anheim,Peter Bauer,Olivier Bonnot,Andrea Dardis,Carlo Dionisi-Vici,Hans H. Klünemann,Philippe Latour,Charles Marques Lourenço,Daniel S. Ory,Alasdair Parker,Miguel Pocovi,Michael Strupp,Marie T. Vanier,Mark Walterfang,Thorsten Marquardt +17 more
TL;DR: This publication provides expert recommendations for clinicians who may see patients presenting with the signs and symptoms of NP-C, including general practitioners, pediatricians, neurologists, and psychiatrists, and on screening within specific at-risk patient cohorts.
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Drug discovery and development for rare genetic disorders.
Wei Sun,Wei Zheng,Anton Simeonov +2 more
TL;DR: The state‐of‐the‐art drug discovery strategies for small molecules and biological approaches for orphan diseases are reviewed, and the role of biomarkers in drug discovery and development, as well as clinical trials, is elucidated.
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Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.
Randy J. Chandler,Ian M. Williams,Alana L. Gibson,Cristin Davidson,Arturo Incao,Brandon T. Hubbard,Forbes D. Porter,William J. Pavan,Charles P. Venditti +8 more
TL;DR: The results provide the first demonstration that gene therapy may represent a therapeutic option for NPC1 patients and suggest that extraneuronal NPC1 expression can further augment the lifespan of the Npc1-/- mice after systemic AAV gene delivery.
References
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Niemann-Pick disease type C
TL;DR: The primary laboratory diagnosis requires living skin fibroblasts to demonstrate accumulation of unesterified cholesterol in perinuclear vesicles (lysosomes) after staining with filipin, and genotyping of patients is useful to confirm the diagnosis in the latter patients and essential for future prenatal diagnosis.
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The Human Gene Mutation Database: 2008 update
Peter D. Stenson,Matthew Mort,Edward V. Ball,Katy Howells,Andrew David Phillips,Nicholas Stuart Tudor Thomas,David Neil Cooper +6 more
TL;DR: Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has since acquired a much broader utility for researchers, physicians, clinicians and genetic counselors as well as for companies specializing in biopharmaceuticals, bioinformatics and personalized genomics.
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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
Sharon E. Plon,Diana Eccles,Douglas F. Easton,William D. Foulkes,Maurizio Genuardi,Marc S. Greenblatt,Frans B. L. Hogervorst,Nicoline Hoogerbrugge,Amanda B. Spurdle,Sean V. Tavtigian +9 more
TL;DR: The current state of sequence‐based genetic testing is reviewed, other standardized reporting systems used in oncology are described, and a standardized classification system for application to sequence-based results for cancer predisposition genes is proposed.
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Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
Emyr Lloyd-Evans,Anthony J. Morgan,Xingxuan He,David Smith,Elena Elliot-Smith,Daniel J. Sillence,Grant C. Churchill,Edward H. Schuchman,Antony Galione,Frances M. Platt +9 more
TL;DR: It is found that NPC1-mutant cells have a large reduction in the acidic compartment calcium store compared to wild-type cells, which represents a new target for therapeutic intervention, as elevation of cytosolic calcium with curcumin normalized NPC1 disease cellular phenotypes and prolonged survival of the NPC1 mouse.
Journal ArticleDOI
Niemann-Pick disease type C.
Marie T. Vanier,Gilles Millat +1 more
TL;DR: Identification of mutations revealed a complex picture of molecular heterogeneity, allowing genotype ‐ phenotype correlations for both genes and providing insights into structure ‐ function relationships for the NPC1 protein.