Works matching DE "NIEMANN-Pick diseases"
Results: 672
Rare disease heralded by pulmonary manifestations: Avoiding pitfalls of an "asthma" label.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
A young child with persistent respiratory symptoms: Think beyond asthma.
- Published in:
- 2017
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- Publication type:
- Editorial
Lysosomal Targeting of β‐Cyclodextrin.
- Published in:
- Chemistry - A European Journal, 2023, v. 29, n. 4, p. 1, doi. 10.1002/chem.202203252
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- Publication type:
- Article
Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection.
- Published in:
- Nature, 2011, v. 477, n. 7364, p. 344, doi. 10.1038/nature10380
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- Publication type:
- Article
Niemann-Pick Disease With Bilateral Adrenal Mass.
- Published in:
- JCEM Case Reports, 2023, v. 1, n. 6, p. 1, doi. 10.1210/jcemcr/luad152
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- Publication type:
- Article
Acid sphingomyelinase is a key regulator of cytotoxic granule secretion by primary T lymphocytes.
- Published in:
- Nature Immunology, 2009, v. 10, n. 7, p. 761, doi. 10.1038/ni.1757
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- Publication type:
- Article
ASMase: the tailor of cytotoxic T cell granule exocytosis.
- Published in:
- Nature Immunology, 2009, v. 10, n. 7, p. 683, doi. 10.1038/ni0709-683
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- Publication type:
- Article
Sorting (Nexin-13) out Novel Insights into Endolysosomal Cholesterol Export.
- Published in:
- Contact (25152564), 2022, p. 1, doi. 10.1177/25152564221114513
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- Publication type:
- Article
Psychiatric manifestations of Niemann-Pick type C disease – two case reports.
- Published in:
- European Psychiatry, 2016, v. 33, p. S578, doi. 10.1016/j.eurpsy.2016.01.1698
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- Publication type:
- Article
Adult Psychiatric Diagnosis of Niemann-pick Disease Type C (Case Study).
- Published in:
- European Psychiatry, 2015, v. 30, p. 991, doi. 10.1016/S0924-9338(15)30778-1
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- Publication type:
- Article
Exocytosis of acid sphingomyelinase by wounded cells promotes endocytosis and plasma membrane repair.
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- Journal of Cell Biology, 2010, v. 189, n. 6, p. 1027, doi. 10.1083/jcb.201003053
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- Publication type:
- Article
Adenovirus RID-α activates an autonomous cholesterol regulatory mechanism that rescues defects linked to Niemann-Pick disease type C.
- Published in:
- Journal of Cell Biology, 2009, v. 187, n. 4, p. 537, doi. 10.1083/jcb.200903039
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- Publication type:
- Article
Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7--RILP--p150<sup>Glued</sup> and late endosome positioning.
- Published in:
- Journal of Cell Biology, 2009, v. 185, n. 7, p. 1209, doi. 10.1083/jcb.200811005
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- Publication type:
- Article
Cerebellar Long-term Depression is Deficient in Niemann-Pick Type C Disease Mice.
- Published in:
- Cerebellum, 2011, v. 10, n. 1, p. 88, doi. 10.1007/s12311-010-0233-2
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- Publication type:
- Article
Identification and characterization of protein interactions with the major Niemann-Pick type C disease protein in yeast reveals pathways of therapeutic potential.
- Published in:
- Genetics, 2023, v. 225, n. 1, p. 1, doi. 10.1093/genetics/iyad129
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- Publication type:
- Article
Brain hypometabolism in rare genetic neurodegenerative disease: Niemann-Pick disease type C, spinocerebellar ataxia and Huntington disease assessed by FDG PET.
- Published in:
- Asia Oceania Journal of Nuclear Medicine & Biology, 2021, v. 9, n. 2, p. 167, doi. 10.22038/AOJNMB.2020.52511.1362
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- Publication type:
- Article
Niemann-Pick disease type C: mutations of NPC1 gene and the course of disease.
- Published in:
- Paediatria Croatica, 2014, v. 58, n. 4, p. 255, doi. 10.13112/PC.2014.45
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- Publication type:
- Article
The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann–Pick Disease: A Comprehensive Review.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 2, p. 211, doi. 10.3390/biom14020211
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- Publication type:
- Article
Molecular Mind Games: The Medicinal Action of Cyclodextrins in Neurodegenerative Diseases.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 4, p. 666, doi. 10.3390/biom13040666
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- Publication type:
- Article
Different solubilizing ability of cyclodextrin derivatives for cholesterol in Niemann–Pick disease type C treatment.
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- Clinical & Translational Medicine, 2023, v. 13, n. 8, p. 1, doi. 10.1002/ctm2.1350
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- Publication type:
- Article
TAVI in Patient Suffering from Niemann–Pick Disease (Acid Sphingomyelinase Deficiency) with Concomitant Situs Inversus and Dextrocardia.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Novel mechanism of U18666A-induced tumour necrosis factor-α production in RAW 264·7 macrophage cells.
- Published in:
- Clinical & Experimental Immunology, 2009, v. 155, n. 3, p. 552, doi. 10.1111/j.1365-2249.2008.03779.x
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- Publication type:
- Article
Niemann–Pick disease type C1 presenting with psychosis in an adolescent male.
- Published in:
- 2009
- By:
- Publication type:
- Report
Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease.
- Published in:
- Case Reports in Neurological Medicine, 2014, p. 1, doi. 10.1155/2014/785890
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- Publication type:
- Article
Acid sphingomyelinase deficiency exacerbates LPS‐induced experimental periodontitis.
- Published in:
- Oral Diseases, 2020, v. 26, n. 3, p. 637, doi. 10.1111/odi.13268
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- Publication type:
- Article
Systemic lupus erythematosus occurring in a patient with Niemann–Pick type B disease.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Inhibition of the Niemann-Pick C1 protein is a conserved feature of multiple strains of pathogenic mycobacteria.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32553-0
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- Publication type:
- Article
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult.
- Published in:
- Frontiers in Neurology, 2017, v. 8, p. 1, doi. 10.3389/fneur.2017.00108
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- Publication type:
- Article
A Potential Role for the Amyloid Precursor Protein in the Regulation of Interferon Signaling, Cholesterol Homeostasis, and Tau Phosphorylation in Niemann–Pick Disease Type C.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 1066, doi. 10.3390/genes15081066
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- Publication type:
- Article
Differential Interferon Signaling Regulation and Oxidative Stress Responses in the Cerebral Cortex and Cerebellum Could Account for the Spatiotemporal Pattern of Neurodegeneration in Niemann–Pick Disease Type C.
- Published in:
- Genes, 2024, v. 15, n. 1, p. 101, doi. 10.3390/genes15010101
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- Publication type:
- Article
Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study.
- Published in:
- Genes, 2022, v. 13, n. 6, p. 973, doi. 10.3390/genes13060973
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- Publication type:
- Article
Sphingomyelinase-induced ceramide production stimulate calcium-independent JNK and PP2A activation following cerebral ischemia.
- Published in:
- Brain Injury, 2009, v. 23, n. 13/14, p. 1073, doi. 10.3109/02699050903379388
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- Publication type:
- Article
A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene.
- Published in:
- Journal of Neurosciences in Rural Practice, 2023, v. 14, n. 1, p. 189, doi. 10.25259/JNRP-2022-6-43
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- Publication type:
- Article
Niemann-Pick Type C disease: A case report.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Impact of Potential Symptoms and Risks Associated with Acid Sphingomyelinase Deficiency on Patients and Caregivers: A Best-Worst Scaling Study.
- Published in:
- Patient Preference & Adherence, 2023, v. 17, p. 927, doi. 10.2147/PPA.S381371
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- Publication type:
- Article
Maternal Mortality: 10 Year Experience of a Tertiary Center in Turkey.
- Published in:
- Case Reports in Medicine, 2020, p. 1, doi. 10.1155/2020/3595024
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- Publication type:
- Article
Peripheral neuropathy as a very rare symptom in a patient with Niemann-Pick type C with negative enzymatic evaluation: a case report.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Cerebrospinal fluid neurofilament light chain is elevated in Niemann–Pick type C compared to psychiatric disorders and healthy controls and may be a marker of treatment response.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Differently increased volumes of multiple brain areas in Npc1 mutant mice following various drug treatments.
- Published in:
- Frontiers in Neuroanatomy, 2024, p. 1, doi. 10.3389/fnana.2024.1430790
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- Publication type:
- Article
Characterization of 42 Egyptian Children with Lysosomal Storage Disorders.
- Published in:
- Egyptian Journal of Hospital Medicine, 2022, v. 88, p. 3069, doi. 10.21608/ejhm.2022.244542
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- Publication type:
- Article
Niemann-Pick type III and Crohn's disease.
- Published in:
- Journal of the Royal Society of Medicine, 1983, v. 76, n. 4, p. 307
- By:
- Publication type:
- Article
Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 8, p. 4217, doi. 10.3390/ijms25084217
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- Publication type:
- Article
Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 16, p. 12645, doi. 10.3390/ijms241612645
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- Publication type:
- Article
New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 12, p. 10177, doi. 10.3390/ijms241210177
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- Publication type:
- Article
Glucosylceramide Synthase Inhibitors Induce Ceramide Accumulation and Sensitize H3K27 Mutant Diffuse Midline Glioma to Irradiation.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 12, p. 9905, doi. 10.3390/ijms24129905
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- Publication type:
- Article
Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9756, doi. 10.3390/ijms24119756
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- Publication type:
- Article
Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810573
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- Publication type:
- Article
Bidirectional Control between Cholesterol Shuttle and Purine Signal at the Central Nervous System.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8683, doi. 10.3390/ijms23158683
- By:
- Publication type:
- Article
Complex N-Linked Glycosylation: A Potential Modifier of Niemann–Pick Disease, Type C1 Pathology.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 5082, doi. 10.3390/ijms23095082
- By:
- Publication type:
- Article
Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12870, doi. 10.3390/ijms222312870
- By:
- Publication type:
- Article