Abstract Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive
disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes …

Abstract Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage
disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical …

High-throughput functional characterization of genetic variants in their endogenous locus
has so far been possible only with methods that rely on homology-directed repair, which are …

Abstract Objective Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive,
neurodegenerative disease associated with a wide variety of progressive neurological …

Niemann–Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by
mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases) …

Summary 25% of all people aged 55 years and older have a family history of dementia. For
most, the family history is due to genetically complex disease, where many genetic …

Cells in the mammalian body must accurately maintain their content of cholesterol, which is
an essential membrane component and precursor for vital signalling molecules. Outside the …

Abstract Purpose of review: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder
that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key …

Niemann-Pick type C1 (NPC1) disease is a rare progressive neurodegenerative disorder
characterized by accumulation of cholesterol in the endolysosomes. Previous studies …

Niemann-Pick type C1 (NPC1) disease is a rare, progressively fatal neurodegenerative
disease for which there are no FDA-approved therapies. A major barrier to developing new …