Niemann-Pick Disease Latest Advances

Find the Latest Research About Niemann-Pick Disease

Last Updated: 04/28/2026

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Found 5132 publications

A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.

A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.

Journal: Neurocase
Published: April 14, 2026

Discovery of Autophagy Modulators that Increase I1061T NPC1 Expression and Promote Cholesterol Efflux in Niemann-Pick Type C Patient-Derived Fibroblasts.

Discovery of Autophagy Modulators that Increase I1061T NPC1 Expression and Promote Cholesterol Efflux in Niemann-Pick Type C Patient-Derived Fibroblasts.

Journal: ACS chemical biology
Published: April 03, 2026

Plasmodium falciparum Niemann-Pick Type C1-Related protein relies on its physicochemical properties for membrane contact site localization required for cholesterol homeostasis.

Plasmodium falciparum Niemann-Pick Type C1-Related protein relies on its physicochemical properties for membrane contact site localization required for cholesterol homeostasis.

Journal: bioRxiv : the preprint server for biology
Published: April 03, 2026

An Analysis of Biomarkers for the Evaluation of Gene Therapy in Niemann-Pick Disease Type C1 Mice.

An Analysis of Biomarkers for the Evaluation of Gene Therapy in Niemann-Pick Disease Type C1 Mice.

Journal: Human gene therapy
Published: March 26, 2026

A pH-driven receptor switch from ACE2 to NPC1 enables endosomal entry of SARS-CoV-2.

A pH-driven receptor switch from ACE2 to NPC1 enables endosomal entry of SARS-CoV-2.

Journal: Research square
Published: March 20, 2026

Early Diagnosis of Nieman-Pick Disease Type C and Rapid Response of Gelastic Cataplexy to Treatment With N-Acetyl-L-Leucine: A Case Report.

Early Diagnosis of Nieman-Pick Disease Type C and Rapid Response of Gelastic Cataplexy to Treatment With N-Acetyl-L-Leucine: A Case Report.

Journal: The American journal of case reports
Published: March 19, 2026

Olfactory gene profiling in ticks: A scoping review with a functional perspective.

Olfactory gene profiling in ticks: A scoping review with a functional perspective.

Journal: Veterinary and animal science
Published: March 18, 2026

Inherited metabolic disease presenting as a psychiatric disorder

Inherited metabolic disease presenting as a psychiatric disorder

Journal: Ugeskrift for laeger
Published: March 18, 2026

Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles.

Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles.

Journal: Journal of inherited metabolic disease
Published: March 01, 2026

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1.

Journal: medRxiv : the preprint server for health sciences
Published: February 26, 2026

Generation and characterization of human iPSC-derived NPC1 I1061T/I10161T i 3 Neurons as a model for NPC1 disease.

Generation and characterization of human iPSC-derived NPC1 I1061T/I10161T i 3 Neurons as a model for NPC1 disease.

Journal: bioRxiv : the preprint server for biology
Published: February 23, 2026

Mass spectrometry-based lipid analysis in NPC1 disease: Methods for phosphoinositide quantification, lipid imaging, and myelin lipid profiling.

Mass spectrometry-based lipid analysis in NPC1 disease: Methods for phosphoinositide quantification, lipid imaging, and myelin lipid profiling.

Journal: Methods in enzymology
Published: February 20, 2026
Showing 1-12 of 5,132

Last Updated: 04/28/2026