Cargando…

Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases

Lysosomal storage diseases are inherited metabolic disorders caused by genetic defects causing deficiency of various lysosomal proteins, and resultant accumulation of non-degraded compounds. They are multisystemic diseases, and in most of them (>70 %) severe brain dysfunctions are evident. Howeve...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jakóbkiewicz-Banecka, Joanna, Gabig-Cimińska, Magdalena, Banecka-Majkutewicz, Zyta, Banecki, Bogdan, Węgrzyn, Alicja, Węgrzyn, Grzegorz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer US 2013
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930848/ https://www.ncbi.nlm.nih.gov/pubmed/24307179 http://dx.doi.org/10.1007/s11011-013-9455-6

Ejemplares similares

The model homologue of the partially defective human 5,10-methylenetetrahydrofolate reductase, considered as a risk factor for stroke due to increased homocysteine level, can be protected and reactivated by heat shock proteins
por: Grabowski, Michał, et al.
Publicado: (2016)

Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders
por: Moskot, Marta, et al.
Publicado: (2018)

Activities of genes controlling sphingolipid metabolism in human fibroblasts treated with flavonoids
por: Moskot, Marta, et al.
Publicado: (2015)

Modulation of expression of genes involved in glycosaminoglycan metabolism and lysosome biogenesis by flavonoids
por: Moskot, Marta, et al.
Publicado: (2015)

Nonsteroidal anti-inflammatory drugs modulate cellular glycosaminoglycan synthesis by affecting EGFR and PI3K signaling pathways
por: Mozolewski, Paweł, et al.
Publicado: (2017)

Corrigendum: Modulation of expression of genes involved in glycosaminoglycan metabolism and lysosome biogenesis by flavonoids
por: Moskot, Marta, et al.
Publicado: (2016)

Corrigendum: Modulation of expression of genes involved in glycosaminoglycan metabolism and lysosome biogenesis by flavonoids
por: Moskot, Marta, et al.
Publicado: (2016)

Effects of flavonoids on glycosaminoglycan synthesis: implications for substrate reduction therapy in Sanfilippo disease and other mucopolysaccharidoses
por: Kloska, Anna, et al.
Publicado: (2011)

Synthetic genistein derivatives as modulators of glycosaminoglycan storage
por: Kloska, Anna, et al.
Publicado: (2012)

Molecular action of isoflavone genistein in the human epithelial cell line HaCaT
por: Smolińska, Elwira, et al.
Publicado: (2018)

The Role of Dimethyl Sulfoxide (DMSO) in Gene Expression Modulation and Glycosaminoglycan Metabolism in Lysosomal Storage Disorders on an Example of Mucopolysaccharidosis
por: Moskot, Marta, et al.
Publicado: (2019)

Effects of flavonoids on expression of genes involved in cell cycle regulation and DNA replication in human fibroblasts
por: Moskot, Marta, et al.
Publicado: (2015)

Effect of Silicone on the Collagen Fibrillogenesis and Stability
por: Kadziński, Leszek, et al.
Publicado: (2015)

Lipophagy and Lipolysis Status in Lipid Storage and Lipid Metabolism Diseases
por: Kloska, Anna, et al.
Publicado: (2020)

Models in the Research Process of Psoriasis
por: Bocheńska, Katarzyna, et al.
Publicado: (2017)

Lipids and Lipid Mediators Associated with the Risk and Pathology of Ischemic Stroke
por: Kloska, Anna, et al.
Publicado: (2020)

Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway
por: Jakóbkiewicz-Banecka, Joanna, et al.
Publicado: (2009)

Lysosome Alterations in the Human Epithelial Cell Line HaCaT and Skin Specimens: Relevance to Psoriasis
por: Bocheńska, Katarzyna, et al.
Publicado: (2019)

Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development
por: Bruhn-Olszewska, Bożena, et al.
Publicado: (2017)

Correction: Bocheńska, K. et al. Lysosome Alterations in the Human Epithelial Cell Line HaCaT and Skin Specimens: Relevance to Psoriasis. Int. J. Mol. Sci. 2019, 20, 2255
por: Bocheńska, Katarzyna, et al.
Publicado: (2020)

Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study
por: Węgrzyn, Grzegorz, et al.
Publicado: (2005)

Impact of isoflavone genistein on psoriasis in in vivo and in vitro investigations
por: Bocheńska, Katarzyna, et al.
Publicado: (2021)

Cellular and Gene Expression Response to the Combination of Genistein and Kaempferol in the Treatment of Mucopolysaccharidosis Type I
por: Węsierska, Magdalena, et al.
Publicado: (2022)

Dosage Compensation in Females with X-Linked Metabolic Disorders
por: Juchniewicz, Patrycja, et al.
Publicado: (2021)

Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: Assessment of effects on cognitive functions and general status of patients
por: Piotrowska, Ewa, et al.
Publicado: (2011)

Sample processing for DNA chip array-based analysis of enterohemorrhagic Escherichia coli (EHEC)
por: Basselet, Pascal, et al.
Publicado: (2008)

X-chromosome inactivation patterns depend on age and tissue but not conception method in humans
por: Juchniewicz, Patrycja, et al.
Publicado: (2023)

Ferroptosis and Its Modulation by Autophagy in Light of the Pathogenesis of Lysosomal Storage Diseases
por: Pierzynowska, Karolina, et al.
Publicado: (2021)

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene
por: Pronicka, Ewa, et al.
Publicado: (2011)

Transcriptomic Changes Related to Cellular Processes with Particular Emphasis on Cell Activation in Lysosomal Storage Diseases from the Group of Mucopolysaccharidoses
por: Rintz, Estera, et al.
Publicado: (2020)

Murine Fibroblasts and Primary Hepatocytes as Tools When Studying the Efficacy of Potential Therapies for Mucopolysaccharidosis Type I
por: Węsierska, Magdalena, et al.
Publicado: (2022)

Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses
por: Baydakova, Galina, et al.
Publicado: (2020)

Editorial: Neuronopathic lysosomal storage diseases - specific neuronal characteristics and therapeutic approaches
por: Flunkert, Stefanie, et al.
Publicado: (2022)

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure
por: Pronicka, Ewa, et al.
Publicado: (2010)

Neuronopathic Gaucher disease: Beyond lysosomal dysfunction
por: Arévalo, Nohela B., et al.
Publicado: (2022)

The mRNA level of the transforming growth factor β1 gene, but not the amount of the gene product, can be considered as a potential prognostic parameter in inflammatory bowel diseases in children
por: Liberek, Anna, et al.
Publicado: (2012)

Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses
por: Barone, Rita, et al.
Publicado: (2018)

Promoter considerations in the design of lentiviral vectors for use in treating lysosomal storage diseases
por: Rintz, Estera, et al.
Publicado: (2021)

Drug delivery for neuronopathic lysosomal storage diseases: evolving roles of the blood brain barrier and cerebrospinal fluid
por: Sato, Yuji, et al.
Publicado: (2022)

Global Changes of 5-mC/5h-mC Ratio and Methylation of Adiponectin and Leptin Gene in Placenta Depending on Mode of Delivery
por: Słabuszewska-Jóźwiak, Aneta, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_phh5h519pqgjti1do7ekqit4cq