ArticleAmerican journal of medical genetics. Part A2012
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1.
Article in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- Neuropsychological assessment in Niemann-Pick disease type C: a systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.Movement disorders : official journal of the Movement Disorder Society · 2019Pooled it
- A Rapamycin Pharmacogenomic Approach for the Childhood Dementia Niemann-Pick C.Journal of inherited metabolic disease · 2026Article
- APOE4-Expressing Astrocytes Exhibit Parkinson's Disease-Related Pathology.Molecular neurobiology · 2026Article
- APOE3 astrocytes can rescue lipid abnormalities and dystrophic neurites of APOE4 human neurons.PNAS nexus · 2026Article
- Exploration of Bromodomain Proteins as Drug Targets for Niemann-Pick Type C Disease.International journal of molecular sciences · 2025Article
- ApoE4 requires lipidation enhancement to resolve cellular lipid and protein abnormalities following NPC1 inhibition.Scientific reports · 2025Article
- Differential gene expression patterns in Niemann-Pick Type C and Tay-Sachs diseases: Implications for neurodegenerative mechanisms.PloS one · 2025Article
- Heterozygosity in NPC may be associated with neurologic and systemic phenotypes.Frontiers in neurology · 2025Review
- Sterol O-Acyltransferase 1 (International journal of molecular sciences · 2024Article
- Upstream lipid and metabolic systems are potential causes of Alzheimer's disease, Parkinson's disease and dementias.The FEBS journal · 2024Review
- Comparative Hippocampal Proteome and Phosphoproteome in a Niemann-Pick, Type C1 Mouse Model Reveal Insights into Disease Mechanisms.Journal of proteome research · 2024Article
- Discovery of a Small-Molecule Modulator of the Autophagy-Lysosome Pathway That Targets Lamin A/C and LAMP1, Induces Autophagic Flux, and Affects Lysosome Positioning in Neurons.ACS chemical neuroscience · 2023Article
- Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.Journal of neurology · 2021Review
- Neuropsychological and behavioral disorders as presentation symptoms in two brothers with early-infantile Niemann-Pick type C.Acta bio-medica : Atenei Parmensis · 2020Article
- Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella.International journal of molecular sciences · 2020Article
- Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management.CNS drugs · 2019Review
- The Interplay Between Apolipoprotein E4 and the Autophagic-Endocytic-Lysosomal Axis.Molecular neurobiology · 2018Review
- Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer's dementia.Orphanet journal of rare diseases · 2018Article
- Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC.F1000Research · 2018Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Niemann-Pick disease, type C1 (NPC1) is a lipid storage disorder that results in progressive neurological impairment. The NPC1 phenotype is extremely variable and at the individual level is likely influenced by other genetic traits. In addition to residual function of NPC1 protein, we hypothesize that modifier genes, as frequently observed with other autosomal recessive diseases, influence the NPC phenotype. The NPC1 phenotype includes progressive dementia, and the NPC pathology has some overlap with the pathology of Alzheimer disease (AD). Thus, we examined apolipoprotein E (ApoE) and microtubule-associated protein tau (MAPT) polymorphisms in a cohort of 15 NPC1 patients with well characterized longitudinal disease progression. Although we did not find any correlations between disease severity and tau polymorphisms, we found significant associations between ApoE polymorphisms and phenotypic severity. Specifically, ApoE4 and ApoE2 alleles were associated, respectively, with increased and decreased disease severity in this cohort of NPC1 patients. These data support the hypothesis that ApoE may play a role in modulating NPC1 neuropathology.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.