Compounds > filipin
Page last updated: 2024-08-22

filipin and Niemann-Pick Disease, Type C

filipin has been researched along with Niemann-Pick Disease, Type C in 19 studies

Research

Studies (19)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (10.53)29.6817
2010's16 (84.21)24.3611
2020's1 (5.26)2.80

Authors

AuthorsStudies
Berensztein, E; Eiroa, H; Marino, R; Mirarchi, F; Terada, C1
Battisti, C; De Santi, MM; Federico, A; Formichi, P; Guazzo, R; Radi, E; Rossi, B; Tarquini, E; Tripodi, SA1
Abdo, SM; Bodamer, O; Chen, P; Cho, M; Hung, C; Leeman, K; Mihalek, I; O'Donnell-Luria, A; Rohanizadegan, M; Sanders, M1
Bonatto, MP; Burin, MG; de Oliveira Schmitt Ribas, G; Giugliani, R; Hammerschmidt, TG; Kessler, RG; Michelin-Tirelli, K; Saraiva-Pereira, ML; Souza, FTS; Trapp, F; Vargas, CR1
Feng, X; Luo, J; Rolfs, A; Yang, F1
Bang, AG; Feltes, M; Kaufman, RJ; Ory, DS; Pugach, EK1
Bautista, J; Cáceres-Redondo, MT; Carrillo, F; Coll, MJ; Cordones, I; Escudero, M; Jesús, S; Macías-Vidal, J; Mir, P1
Eto, Y; Ida, H; Matsuda, S; Narita, A; Noguchi, A; Ohashi, T; Ohno, K; Sakai, N; Shinpoo, M; Takahashi, T; Takamura, A; Yamamoto, M1
Anheim, M; Broussolle, E; Fleury-Lesaunier, MC; Gervais-Bernard, H; Hirsch, E; Lagha-Boukbiza, O; Latour, P; Thobois, S; Tranchant, C; Valenti-Hirsch, MP; Vanier, MT1
Hyun, SH; Kulkarni, A; McCauliff, LA; Mondjinou, YA; Paul, L; Storch, J; Thompson, DH; Wirth, M; Wu, Z; Zhang, Z1
Latour, P; Vanier, MT1
Hamatani, M; Jingami, N; Kinoshita, H; Nakasone, N; Ninomiya, H; Takahashi, R; Uemura, K; Yamakado, H1
Burin, M; de Mari, J; Deon, M; Giugliani, R; Kessler, R; Mescka, C; Michelin, K; Ribas, GS; Saraiva-Pereira, ML; Souza, HM; Trapp, F; Vargas, CR1
Cebolla, JJ; De Castro-Orós, I; Dominguez, C; Irún, P; Mallén, M; Mozas, P; Pocoví, M; Pueyo, MJ; Rodriguez-Sureda, V1
Abel, LA; Bowman, EA; Fietz, M; Velakoulis, D; Walterfang, M1
D'Souza-Schorey, C; Pietrini, SD; Schweitzer, JK1
Adams, S; Fietz, M; Kornberg, A; Velakoulis, D; Walterfang, M1
Mengel, E; Runz, H; Tängemo, C; Theiss, S; Weber, D1
Dimbil, UJ; Klein, AD; Lopez, ME; Scott, MP1

Other Studies

19 other study(ies) available for filipin and Niemann-Pick Disease, Type C

ArticleYear
Molecular and functional study of pediatric patients with Niemann-Pick C in Argentina.
    Medicina, 2022, Volume: 82, Issue:2

    Topics: Argentina; Child; Filipin; Humans; Infant; Mutation; Niemann-Pick Disease, Type C

2022
Primary cilium alterations and expression changes of Patched1 proteins in niemann-pick type C disease.
    Journal of cellular physiology, 2018, Volume: 233, Issue:1

    Topics: Acetylation; Adolescent; Adult; Androstenes; Blotting, Western; Carrier Proteins; Case-Control Studies; Cell Separation; Cells, Cultured; Cholesterol; Cilia; Cytoplasm; Down-Regulation; Female; Fibroblasts; Filipin; Fluorescent Antibody Technique; Humans; Intracellular Signaling Peptides and Proteins; Male; Membrane Glycoproteins; Microscopy, Fluorescence; Middle Aged; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Patched-1 Receptor; Primary Cell Culture; Tubulin; Young Adult

2018
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.
    Cold Spring Harbor molecular case studies, 2017, Volume: 3, Issue:6

    Topics: Carrier Proteins; Exome; Exome Sequencing; Filipin; Humans; Hydrops Fetalis; Infant, Newborn; Intracellular Signaling Peptides and Proteins; Liver; Liver Failure, Acute; Male; Membrane Glycoproteins; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C

2017
Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
    International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2018, Volume: 66

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Child; Cholestanols; Female; Filipin; Glycoside Hydrolase Inhibitors; Hexosaminidases; Humans; Male; Membrane Glycoproteins; Mutation; Niemann-Pick Disease, Type C; Skin; Young Adult

2018
Lovastatin promotes myelin formation in NPC1 mutant oligodendrocytes.
    Journal of the neurological sciences, 2018, 03-15, Volume: 386

    Topics: Animals; Animals, Newborn; Anticholesteremic Agents; Antiviral Agents; Basic Helix-Loop-Helix Transcription Factors; Cell Differentiation; Cells, Cultured; Cerebral Cortex; Culture Media, Conditioned; Disease Models, Animal; Filipin; Gene Expression Regulation; Lovastatin; Mice; Mice, Inbred BALB C; Mice, Transgenic; Mutation; Myelin Proteins; Myelin Sheath; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Oligodendrocyte Transcription Factor 2; Oligodendroglia

2018
High-content screen for modifiers of Niemann-Pick type C disease in patient cells.
    Human molecular genetics, 2018, 06-15, Volume: 27, Issue:12

    Topics: Biguanides; Carrier Proteins; Cholesterol; Drug Evaluation, Preclinical; Endoplasmic Reticulum; Fibroblasts; Filipin; Histone Deacetylase Inhibitors; Humans; Intracellular Signaling Peptides and Proteins; Lysosomal-Associated Membrane Protein 1; Lysosomes; Membrane Glycoproteins; Metabolome; Mutation, Missense; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C

2018
Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat.
    Parkinsonism & related disorders, 2013, Volume: 19, Issue:10

    Topics: 1-Deoxynojirimycin; Activities of Daily Living; Adult; Anti-Bacterial Agents; Carrier Proteins; Disability Evaluation; Enzyme Inhibitors; Filipin; Glycoside Hydrolase Inhibitors; Humans; Intracellular Signaling Peptides and Proteins; Male; Membrane Glycoproteins; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Phenotype; Psychomotor Performance; Saccades

2013
The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear.
    Molecular genetics and metabolism, 2013, Volume: 110, Issue:3

    Topics: Adolescent; Blood Cells; Child; Child, Preschool; Female; Filipin; Humans; Male; Niemann-Pick Disease, Type C; Staining and Labeling; Young Adult

2013
Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.
    Journal of neurology, 2014, Volume: 261, Issue:1

    Topics: Adolescent; Adult; Age of Onset; Brain Waves; Carrier Proteins; Child; Child, Preschool; Electroencephalography; Female; Filipin; Humans; Intracellular Signaling Peptides and Proteins; Male; Membrane Glycoproteins; Movement Disorders; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Young Adult

2014
Synthesis of 2-hydroxypropyl-β-cyclodextrin/pluronic-based polyrotaxanes via heterogeneous reaction as potential Niemann-Pick type C therapeutics.
    Biomacromolecules, 2013, Dec-09, Volume: 14, Issue:12

    Topics: 2-Hydroxypropyl-beta-cyclodextrin; beta-Cyclodextrins; Cells, Cultured; Cholesterol; Cyclodextrins; Drug Carriers; Endocytosis; Fibroblasts; Filipin; Humans; Molecular Weight; Niemann-Pick Disease, Type C; Poloxamer; Rotaxanes

2013
Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.
    Methods in cell biology, 2015, Volume: 126

    Topics: Animals; Biomarkers; Cells, Cultured; Cholesterol, LDL; Filipin; Humans; Niemann-Pick Disease, Type C; Staining and Labeling

2015
A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome.
    Rinsho shinkeigaku = Clinical neurology, 2016, 06-22, Volume: 56, Issue:6

    Topics: Adult; Autistic Disorder; Fibroblasts; Filipin; Genetic Testing; Humans; Male; Niemann-Pick Disease, Type C; Phenotype; Schizophrenia; Staining and Labeling; Syndrome; Tomography, Emission-Computed, Single-Photon

2016
Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis.
    Clinica chimica acta; international journal of clinical chemistry, 2016, Aug-01, Volume: 459

    Topics: 1-Deoxynojirimycin; Brazil; Carrier Proteins; Cholestanols; Filipin; Glycoproteins; Hexosaminidases; Humans; Intracellular Signaling Peptides and Proteins; Membrane Glycoproteins; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Staining and Labeling; Vesicular Transport Proteins

2016
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
    Journal of translational medicine, 2017, 02-21, Volume: 15, Issue:1

    Topics: Adolescent; Adult; Chemokines, CC; Child; Child, Preschool; Computer Simulation; Demography; Family; Female; Filipin; Hexosaminidases; Humans; Infant; Male; Middle Aged; Mutation; Niemann-Pick Disease, Type C; Oxysterols; Prospective Studies; Young Adult

2017
Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.
    Neurology, 2009, Mar-24, Volume: 72, Issue:12

    Topics: Adult; Biomarkers; Brain Stem; Cholesterol; Disease Progression; Esterification; Female; Filipin; Frontal Lobe; Humans; Male; Neurologic Examination; Neuropsychological Tests; Niemann-Pick Disease, Type C; Ocular Motility Disorders; Predictive Value of Tests; Psychomotor Performance; Reaction Time; Reflex, Abnormal; Saccades; Severity of Illness Index

2009
ARF6-mediated endosome recycling reverses lipid accumulation defects in Niemann-Pick Type C disease.
    PloS one, 2009, Volume: 4, Issue:4

    Topics: ADP-Ribosylation Factor 6; ADP-Ribosylation Factors; Androstenes; Anticholesteremic Agents; Cholesterol; Endosomes; Filipin; Golgi Apparatus; HeLa Cells; Humans; Lipid Metabolism; Lysosomal Membrane Proteins; Niemann-Pick Disease, Type C; Recombinant Fusion Proteins; RNA, Small Interfering

2009
Post-ictal psychosis in adolescent Niemann-Pick disease type C.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    Topics: Adolescent; Age Factors; Anticonvulsants; Cells, Cultured; Cholesterol Esters; Esterification; Fibroblasts; Filipin; Gait Disorders, Neurologic; Humans; Magnetic Resonance Imaging; Male; Niemann-Pick Disease, Type C; Psychotic Disorders; Seizures; Treatment Outcome; Valproic Acid

2010
Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.
    Journal of lipid research, 2011, Volume: 52, Issue:4

    Topics: ATP Binding Cassette Transporter 1; ATP-Binding Cassette Transporters; Carrier Proteins; Cells, Cultured; Cholesterol; Cholesterol, HDL; DNA Mutational Analysis; Filipin; Glycoproteins; Humans; Intracellular Signaling Peptides and Proteins; Lysosomes; Membrane Glycoproteins; Mutation; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; RNA Interference; Vesicular Transport Proteins

2011
Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder.
    The Journal of neuroscience : the official journal of the Society for Neuroscience, 2011, Mar-23, Volume: 31, Issue:12

    Topics: Animals; Ataxia; Blotting, Western; Body Weight; Cell Count; Dystonia; Filipin; Genes, Reporter; Genetic Therapy; Genotype; Immunohistochemistry; Inflammation; Intracellular Signaling Peptides and Proteins; Mice; Mice, Knockout; Microglia; Nesting Behavior; Neurons; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Proteins; Psychomotor Performance; Purkinje Fibers; Sterols; Survival

2011