Niemann-Pick type A
Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann–Pick diseases
... in Niemann–Pick type A cells ...in Niemann–Pick type A cells, along with the amelioration of peripheral phenotypes in Niemann–Pick C mice following ...of ...
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Functional analysis of Niemann Pick disease type C family protein, NPC1a, in Drosophila melanogaster
... During embryonic gonad coalescence, primordial germ cells (PGCs) follow a carefully choreographed migratory route circumscribed by guidance signals towards somatic gonadal precursor cells (SGPs). In Drosophila ...
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Glycine N-Methyltransferase Deficiency Affects Niemann-Pick Type C2 Protein Stability and Regulates Hepatic Cholesterol Homeostasis
... B type 1 (SR-B1), 3-hydroxy-3-methyl-glutaryl- coenzyme A reductase (HMGCR), Niemann-Pick type C1 protein (NPC1), lysosome-associated membrane protein 1 (LAMP1) and cathepsin D were pur- ...
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Atypical multisensory integration in Niemann Pick type C disease towards potential biomarkers
... Behavioral performance - reaction times & hit rates The neurotypical group had a higher percentage of hits (correctly pressing the button to stimulus presentations) than the NPC participants. Hit rates are presented ...
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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
... Figure 2 Changes over time in individual patient composite scores on the NP-C disability scale during miglustat treatment. Patients with a ) early-infantile, b ) late-infantile and c ) j[r] ...
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New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
... (EU), USA, Canada, Brazil, Australia, Turkey, Israel, Switzerland, South Korea and New Zealand for the treatment of patients with mild to moderate type 1 Gaucher disease (GD1) for whom enzyme replacement therapy ...
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Lysosomal Storage Disorders in the Newborn
... disease, Niemann-Pick disease types A and B, acid lipase defi- ciency, GM1 and GM2 gangliosidosis, Krabbe disease, metachromatic leukodystrophy, mucolipidosis type 2 and 3, fucosidosis, ␣ ...
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Clinical Reasoning: Psychomotor regression in the young
... The combination of progressive cognitive decline, ataxia, chorea, and vertical gaze impairment all sug- gest a diagnosis of Niemann-Pick disease, type C (NP-C). Therefore, genetic testing for NP-C ...
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Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
... as Niemann-Pick type C, and in the process created an in- novative research collaborative known as Support of Accelerated Research for Niemann-Pick C disease (SOAR-NPC) ...
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A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B
... NPD type C shares the same eponym as NPD caused by ASM deficiency, it is a genetically distinct disorder resulting from defective intracellular trafficking of cholesterol with secondary accumulation of glyco- ...
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Niemann-Pick disease type C
... Many uncertainties thus remain regarding the precise and complete functions of the NPC1 and NPC2 proteins. It has also been suggested that they could be involved in fusion/fission events between the late endosome and the ...
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Subcortical Volumetric Reductions in Adult Niemann Pick Disease Type C: A Cross Sectional Study
... The key limitation of this study is its sample size, which, despite the rarity of adult NPC, remains modest. This size limits the generalizability of our findings to all patients, particularly pediatric patients. ...
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Loss of amyloid precursor protein exacerbates early inflammation in Niemann-Pick disease type C
... disease type C (NPC) is a neurodegenerative disease inherited in an autosomal recessive pattern [1], with mutations in the NPC1 gene accounting for approximately 95% of all reported cases and the remaining 5% of ...
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Deficiency of Niemann-Pick Type C-1 Protein Impairs Release of Human Immunodeficiency Virus Type 1 and Results in Gag Accumulation in Late Endosomal/Lysosomal Compartments
... virus type 1 (HIV-1) relies on cholesterol-laden lipid raft membrane microdo- mains for entry into and egress out of susceptible ...using Niemann-Pick type C-1 (NPC1)-deficient (NPCD) cells, ...
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Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
... as type B. One patient, from the type B group, presented with the unusual symptom of a secondary ...the type B group and two from the intermediate group, presented with pronounced proteinuria, in the ...
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Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
... Niemann-Pick disease type C (NP-C, OMIM 257220, 607625) is a rare autosomal recessive disease belonging to the family of lysosomal storage disorders. Mutations in one of two lysosome-related genes ...
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Complement is dispensable for neurodegeneration in Niemann-Pick disease type C
... Figure 1 C1q and complement component expression is increasingly elevated with age in NPC disease. (A) Compilation of analyses from three independent cerebellar array datasets accessible through the National Center for ...
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Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report
... Here we report on a case with abnormal clinical and laboratory findings of NPD type A in a heterozygous indi- vidual who carried only one pathogenic mutation in the SMPD1 gene (NM_000543.4(SMPD1):c.573delT ...
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The Palliative Use of Intrathecal Baclofen in Niemann-Pick Disease Type C
... disease type C (NPC) is a highly variable, rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty substances (lipids) inside of ...
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Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C
... Niemann-Pick type C (NP-C) is a rare autosomal reces- sive neurodegenerative disorder with an estimated inci- dence of 1 per 120.000 live births [1]. The disorder is caused by mutations in the NP-C 1 ...
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