Associated Papers
Generation and characterization of human iPSC-derived NPC1 I1061T/I10161T i 3 Neurons as a model for NPC1 disease.
Salhotra S et al.
Biorxiv : the Preprint Server for Biology, 2026
Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine.
Makridou A et al.
Current Issues in Molecular Biology, 2025
Cholesterol sensing by the SCAP-FAM134B complex regulates ER-phagy and STING innate immunity.
Li B et al.
Nature Cell Biology, 2025
Advances in mass spectrometry of lipids for the investigation of Niemann-pick type C disease.
Javanshad R et al.
Lipids in Health and Disease, 2025
Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.
Makhamreh MM et al.
Orphanet Journal of Rare Diseases, 2025
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight.
Brown CG et al.
American Journal of Medical Genetics. Part A, 2025
Itraconazole and posaconazole, inhibitors of NPC1 sterol transport, act as pharmacological chaperones after washout.
Wang WA et al.
The Journal of Biological Chemistry, 2025
Membralin Selects Foreign Glycoproteins from the Endoplasmic Reticulum to Lysosomes for Degradation.
Zheng YH et al.
Research Square, 2025
Exploration of Bromodomain Proteins as Drug Targets for Niemann-Pick Type C Disease.
Parente M et al.
International Journal of Molecular Sciences, 2025
Deficiency of myeloid NPC1 exacerbates liver injury and fibrosis by impairing macrophage efferocytosis.
Guan D et al.
Journal of Advanced Research, 2025
Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant.
Kara C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Mechanistic insights into arimoclomol mediated effects on lysosomal function in Niemann-pick type C disease.
Shammas H et al.
Molecular Genetics and Metabolism, 2025
The multiple facets of Rab proteins modulating the cellular distribution of cholesterol from the late endosomal compartment.
Nguyen MKL et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2025
PLA2G15 is a Lysosomal BMP Hydrolase and its Targeting Ameliorates Lysosomal Disease.
Nyame K et al.
Biorxiv : the Preprint Server for Biology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Regulation and function of endoplasmic reticulum autophagy in neurodegenerative diseases.
Zhao XY et al.
Neural Regeneration Research, 2025
FAM134B in Cellular Homeostasis: Bridging Endoplasmic Reticulum-Phagy to Human Diseases.
Chen N et al.
International Journal of Biological Sciences, 2025
Extracellular vesicles in Niemann pick disease type C: current knowledge and future opportunities.
Hawthorne SCB et al.
Frontiers in Cellular Neuroscience, 2025
Myeloid cell-specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease.
Dinkel L et al.
Science Translational Medicine, 2024
Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease.
David H et al.
International Journal of Molecular Sciences, 2024
Molecular determinants of phospholipid treatment to reduce intracellular cholesterol accumulation in NPC1 deficiency.
Deng S et al.
The Journal of Biological Chemistry, 2024
Rosa canina L. Methanol Extract and Its Component Rutin Reduce Cholesterol More Efficiently than Miglustat in Niemann-Pick C Fibroblasts.
Wanes D et al.
International Journal of Molecular Sciences, 2024
Mutant induced neurons and humanized mice enable identification of Niemann-Pick type C1 proteostatic therapies.
Azaria RD et al.
Jci Insight, 2024
Endogenous Protein-Protein Interaction Network of the NPC Cholesterol Transporter 1 in the Cerebral Cortex.
Javanshad R et al.
Journal of Proteome Research, 2024
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?
Ilic N et al.
Genes, 2024
Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice.
Mylvara AV et al.
Biorxiv : the Preprint Server for Biology, 2024
Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches.
Hosseini K et al.
Cell Biochemistry and Function, 2024
ORMDL mislocalization by impaired autophagy in Niemann-Pick type C disease leads to increased de novo sphingolipid biosynthesis.
Brown RDR et al.
Journal of Lipid Research, 2024
Targeting the autophagy-NAD axis protects against cell death in Niemann-Pick type C1 disease models.
Kataura T et al.
Cell Death & Disease, 2024
A disease similarity approach identifies short-lived Niemann-Pick type C disease mice with accelerated brain aging as a novel mouse model for Alzheimer's disease and aging research.
Gujjala VA et al.
Biorxiv : the Preprint Server for Biology, 2024
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Sheth H et al.
Human Genomics, 2024
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Ngo KJ et al.
Npj Parkinson's Disease, 2024
Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
Farhat NY et al.
International Journal of Molecular Sciences, 2024
Endo-lysosomal dysfunction and neuronal-glial crosstalk in Niemann-Pick type C disease.
Malara M et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2024
Alterations in Proteostasis Mechanisms in Niemann-Pick Type C Disease.
Servín Muñoz IV et al.
International Journal of Molecular Sciences, 2024
Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62.
Sousa M et al.
Parkinsonism & Related Disorders, 2024
Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration.
Nunes MJ et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.
Tirelli C et al.
Biomolecules, 2024
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T et al.
The New England Journal of Medicine, 2024
Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
Tao C et al.
Bmc Infectious Diseases, 2024
Unraveling the Connection: Cholesterol, Calcium Signaling, and Neurodegeneration.
Casas M et al.
Neuroscience Insights, 2024
Advances in research on potential therapeutic approaches for Niemann-Pick C1 disease.
Zhang C et al.
Frontiers in Pharmacology, 2024
TOLLIP acts as a cargo adaptor to promote lysosomal degradation of aberrant ER membrane proteins.
Hayashi Y et al.
The Embo Journal, 2023
Niemann-Pick Disease Type C (NPDC) by Mutation of NPC1 and NPC2: Aberrant Lysosomal Cholesterol Trafficking and Oxidative Stress.
Lee D et al.
Antioxidants (basel, Switzerland), 2023