Cargando…

Novel Mutation in the Feline NPC2 Gene in Cats with Niemann–Pick Disease

SIMPLE SUMMARY: Niemann–Pick disease (NP) type C is an autosomal recessive metabolic disorder caused by mutations in the NPC1 or NPC2 gene. It is characterized by cholesterol accumulation in the lysosomes and late endosomes. Herein, we studied the molecular basis of Siamese and Japanese domestic (JD...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rakib, Tofazzal Md, Islam, Md Shafiqul, Uddin, Mohammad Mejbah, Rahman, Mohammad Mahbubur, Yabuki, Akira, Yamagami, Tetsushi, Morozumi, Motoji, Uchida, Kazuyuki, Maki, Shinichiro, Faruq, Abdullah Al, Yamato, Osamu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10252137/ https://www.ncbi.nlm.nih.gov/pubmed/37458497 http://dx.doi.org/10.3390/ani13111744

Ejemplares similares

Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
por: Rakib, Tofazzal Md, et al.
Publicado: (2023)

Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan
por: Pervin, Shahnaj, et al.
Publicado: (2022)

Carrier rate of the c.235G>C mutation in the bovine isoleucyl-tRNA synthetase (IARS) gene of Japanese Black cows at Kagoshima prefecture, Japan, and analysis of the metabolic profiling and reproductive performance of heterozygous cows
por: ISLAM, Md Shafiqul, et al.
Publicado: (2020)

Olfactory Deficits in Niemann-Pick Type C1 (NPC1) Disease
por: Hovakimyan, Marina, et al.
Publicado: (2013)

Carrier Rate and Mutant Allele Frequency of GM1 Gangliosidosis in Miniature Shiba Inus (Mame Shiba): Population Screening of Breeding Dogs in Japan
por: Pervin, Shahnaj, et al.
Publicado: (2022)

Pulmonary Abnormalities in Animal Models Due to Niemann-Pick Type C1 (NPC1) or C2 (NPC2) Disease
por: Roszell, Blair R., et al.
Publicado: (2013)

Niemann-Pick C1 (NPC1)/NPC1-like1 Chimeras Define Sequences Critical for NPC1’s Function as a Filovirus Entry Receptor
por: Krishnan, Anuja, et al.
Publicado: (2012)

Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection
por: Gong, Xin, et al.
Publicado: (2016)

npc2-Deficient Zebrafish Reproduce Neurological and Inflammatory Symptoms of Niemann-Pick Type C Disease
por: Wiweger, Malgorzata, et al.
Publicado: (2021)

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
por: Las Heras, Macarena, et al.
Publicado: (2023)

Molecular Epidemiological Survey for Degenerative Myelopathy in German Shepherd Dogs in Japan: Allele Frequency and Clinical Progression Rate
por: Maki, Shinichiro, et al.
Publicado: (2022)

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
por: Zhang, Huiwen, et al.
Publicado: (2014)

Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C
por: Kubaski, Francyne, et al.
Publicado: (2022)

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature
por: Sheth, Jayesh, et al.
Publicado: (2017)

Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease
por: Schultz, Mark L., et al.
Publicado: (2022)

High Frequency of a Single Nucleotide Substitution (c.-6-180T>G) of the Canine MDR1/ABCB1 Gene Associated with Phenobarbital-Resistant Idiopathic Epilepsy in Border Collie Dogs
por: Mizukami, Keijiro, et al.
Publicado: (2013)

Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease
por: Zampieri, Stefania, et al.
Publicado: (2014)

Characterization of Niemann-Pick Type C2 Protein Expression in Multiple Cancers Using a Novel NPC2 Monoclonal Antibody
por: Liao, Yi-Jen, et al.
Publicado: (2013)

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry
por: Patterson, Marc C., et al.
Publicado: (2020)

Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants
por: Dardis, Andrea, et al.
Publicado: (2020)

Niemann–Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene
por: Dweikat, Imad, et al.
Publicado: (2021)

Niemann-Pick disease type C
por: Vanier, Marie T
Publicado: (2010)

Stem Cells and Niemann Pick Disease
por: Andolina, Marino
Publicado: (2014)

Stem Cells in Niemann-Pick Disease
por: Kim, Sun-Jung, et al.
Publicado: (2008)

Niemann-Pick disease and platelet dysfunction
Publicado: (2012)

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells
por: Ebrahimi-Fakhari, Darius, et al.
Publicado: (2016)

Influence of Npc1 genotype on the toxicity of hydroxypropyl-β-cyclodextrin, a potentially therapeutic agent, in Niemann–Pick Type C disease models()
por: Tanaka, Yuta, et al.
Publicado: (2014)

Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1
por: Chiorean, Andreea, et al.
Publicado: (2020)

NPC1 deficiency impairs cerebellar postnatal development of microglia and climbing fiber refinement in a mouse model of Niemann–Pick disease type C
por: Boyle, Bridget R., et al.
Publicado: (2020)

A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann–Pick Type C1 Disease
por: Hughes, Michael Paul, et al.
Publicado: (2023)

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease
por: Torres, Sandra, et al.
Publicado: (2017)

Niemann-Pick Disease: An Approach for Diagnosis in Adulthood
por: Patiño-Escobar, Bonell, et al.
Publicado: (2019)

Frequency of an X-Linked Maternal Variant of the Bovine FOXP3 Gene Associated with Infertility in Different Cattle Breeds: A Pilot Study
por: Islam, Md Shafiqul, et al.
Publicado: (2022)

Real-Time PCR Genotyping Assay for GM2 Gangliosidosis Variant 0 in Toy Poodles and the Mutant Allele Frequency in Japan
por: RAHMAN, Mohammad Mahbubur, et al.
Publicado: (2013)

Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis
por: Hashemian, Somayyeh, et al.
Publicado: (2019)

The prognostic value of Niemann-Pick C1-like protein 1 and Niemann-Pick disease type C2 in hepatocellular carcinoma
por: Chen, Ke-Ji, et al.
Publicado: (2018)

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
por: Bolton, Shaun C., et al.
Publicado: (2022)

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
por: Azab, Bilal, et al.
Publicado: (2022)

Clear Cell Chondrosarcoma in Association With Niemann-Pick Disease
por: Srikanth, K. N., et al.
Publicado: (2005)

Immune dysfunction in Niemann‐Pick disease type C
por: Platt, Nick, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_oq24vm7r80d2gag9hfbjvs6ck4