Condition: Niemann-Pick Disease, Type C1


rs1055204017 in NPC1 gene and Niemann-Pick Disease, Type C1 PMID 25425405 2014 Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

PMID 19718781 2009 Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.

PMID 23593294 2013 Mitotic spindle defects and chromosome mis-segregation induced by LDL/cholesterol-implications for Niemann-Pick C1, Alzheimer's disease, and atherosclerosis.

PMID 20718790 2011 Molecular analysis of 30 Niemann-Pick type C patients from Spain.

PMID 26981555 2016 Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

PMID 24506780 2014 Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery.

PMID 28167839 2017 New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.

PMID 11349231 2001 Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

PMID 19252935 2009 Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.

PMID 27959697 2017 Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

PMID 12554680 2003 Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.

PMID 10480349 1999 NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.

PMID 12955717 2003 Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

PMID 12408188 2002 Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.

PMID 27238017 2016 Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.

PMID 16098014 2005 Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

PMID 11182931 2000 Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.

PMID 10521297 1999 Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.

PMID 9211849 1997 Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

PMID 16126423 2006 Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.

PMID 12401890 2002 Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

PMID 15774455 2005 Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.

PMID 11545687 2002 Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.

PMID 11479732 2001 Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.

PMID 11333381 2001 Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

PMID 10521290 1999 Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.

PMID 16802107 2006 Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

PMID 9634529 1998 The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

PMID 11754101 2002 NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.

PMID 24915861 2014 Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.

PMID 9927649 1999 Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization.

PMID 15347664 2004 Targeting of NPC1 to late endosomes involves multiple signals, including one residing within the putative sterol-sensing domain.

PMID 23597521 2013 Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalis.

PMID 17003072 2007 The adult form of Niemann-Pick disease type C.

PMID 26984608 2016 Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.

PMID 19744920 2010 The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

PMID 27900365 2016 Genome sequencing in a case of Niemann-Pick type C.

PMID 22065762 2011 Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding.

PMID 26666848 2015 Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.

PMID 27581084 2016 Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.

PMID 27139891 2016 Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

PMID 21245028 2011 Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.

PMID 23146215 2012 Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report.

PMID 30119649 2018 Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.

PMID 22676771 2012 Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

PMID 17160617 2007 The natural history of Niemann-Pick disease type C in the UK.

PMID 15465421 2004 The NPC1 protein: structure implies function.

PMID 25236789 2014 Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.

PMID 9211850 1997 Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

PMID 28130309 2017 Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity.

PMID 12719428 2003 NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols.

PMID 27256227 2016 [Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C].

PMID 27928380 2016 "Facial Dystonia with Facial Grimacing and Vertical Gaze Palsy with ""Round the Houses"" Sign in a 29-Year-Old Woman."

PMID 12205649 2002 Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity.

PMID 22326530 2012 Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.

PMID 24386122 2013 Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

PMID 19900398 2010 Cholesterol as a factor regulating intracellular localization of annexin A6 in Niemann-Pick type C human skin fibroblasts.

PMID 23653225 2014 Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.

PMID 22505584 2012 Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts.

PMID 23430855 2012 Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.

PMID 23433426 2013 Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

PMID 15459971 2004 A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.

PMID 23774949 2014 Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

PMID 22750297 2012 Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease.

PMID 23427322 2013 Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy.

PMID 26206375 2015 GESPA: classifying nsSNPs to predict disease association.

PMID 22476655 2013 Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.

PMID 26939636 2016 Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C.

PMID 23773996 2013 Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.

PMID 27193329 2016 Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C.

PMID 16086131 2005 We report a patient with a classic, neurological, late infantile form of NPC1 disease, carrying the mutation P474L and the variant I642M in the NPC1 gene, who suffered recurrent respiratory manifestations.

PMID 23453666 2013 Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

PMID 27378690 2016 Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.

PMID 17989072 2008 Purified NPC1 protein: II. Localization of sterol binding to a 240-amino acid soluble luminal loop.

PMID 26937389 2015 A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient.

PMID 27366019 2016 Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea.

PMID 24767253 2014 Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

PMID 15130691 2004 Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients.

PMID 24001525 2013 The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear.

PMID 24676439 2014 Niemann-Pick disease type C: a case series of Brazilian patients.

PMID 16138904 2005 A yeast model system for functional analysis of the Niemann-Pick type C protein 1 homolog, Ncr1p.

PMID 25349751 2014 Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.

PMID 27549128 2016 An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.

PMID 25131710 2014 The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.

PMID 28222799 2017 Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.

PMID 19206179 2009 The clinical spectrum of fetal Niemann-Pick type C.

PMID 22704015 2012 Early miglustat therapy in infantile Niemann-Pick disease type C.

PMID 19223215 2009 Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.

PMID 25764212 2016 High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

PMID 26338816 2015 NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening.

PMID 23142039 2012 Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.

PMID 27706244 2016 A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.

PMID 28802248 2017 Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.

PMID 26108224 2015 Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control.

PMID 28193631 2017 Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.

PMID 28480683 2017 Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl.

PMID 29197565 2018 Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 25239094 2014 Atypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkers.

PMID 12974729 2003 Niemann-Pick disease type C.

PMID 3378364 1988 Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.

PMID 20826119 2010 [Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes].

PMID 19307542 2009 Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.

PMID 19609713 2009 Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C.

PMID 19013089 2009 24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.

PMID 16778374 2006 Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid.

PMID 24570279 2014 Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?

PMID 20525256 2010 Niemann-Pick disease type C.

PMID 23183285 2012 Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C.

PMID 14639697 2003 Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study.

PMID 15937921 2005 Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.

PMID 23791518 2013 Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat.

PMID 20521171 2010 Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.

PMID 18216017 2008 Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.

PMID 26019327 2015 Compared with the Npc1(-/-) mouse, this Npc1(tm(I1061T)Dso) model displays a less severe, delayed form of NPC1 disease with respect to weight loss, decreased motor coordination, Purkinje cell death, lipid storage, and premature death.

PMID 25637190 2015 Toward this goal, we have generated an induced pluripotent stem cell line from a subject homozygous for the most frequent NPC1 mutation (p.I1061T) and subsequently created a stable line of neural stem cells (NSCs).

PMID 25149939 2014 Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia, and hallucinations in an adolescent male.

PMID 24035292 2013 Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.

PMID 28155026 2017 Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann-Pick type C disease: review of initial published cases.

PMID 29100954 2018 Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods.