Cargando…

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG

Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common congenital disorder of glycosylation and affects over 1000 patients globally. There are no approved drugs that treat the symptoms or root cause of PMM2-CDG. To identify clinically actionable compounds that boost human PMM2 enzyme funct...

Descripción completa

Detalles Bibliográficos
Autores principales:	Iyer, Sangeetha, Sam, Feba S., DiPrimio, Nina, Preston, Graeme, Verheijen, Jan, Murthy, Kausalya, Parton, Zachary, Tsang, Hillary, Lao, Jessica, Morava, Eva, Perlstein, Ethan O.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Company of Biologists Ltd 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899038/ https://www.ncbi.nlm.nih.gov/pubmed/31636082 http://dx.doi.org/10.1242/dmm.040584

Ejemplares similares

Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches
por: Iyer, Sangeetha, et al.
Publicado: (2019)

Genotype-Phenotype Correlations in PMM2-CDG
por: Vaes, Laurien, et al.
Publicado: (2021)

Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation
por: Lao, Jessica P., et al.
Publicado: (2018)

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG
por: Ligezka, Anna N., et al.
Publicado: (2023)

Mannose supplementation in PMM2-CDG
por: Taday, Roman, et al.
Publicado: (2021)

PMM2‐CDG caused by uniparental disomy: Case report and literature review
por: Vaes, Laurien, et al.
Publicado: (2020)

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
por: Witters, Peter, et al.
Publicado: (2021)

Anthropometric Phenotype of Patients with PMM2-CDG
por: Lipiński, Patryk, et al.
Publicado: (2021)

Epalrestat, an aldose reductase inhibitor, in diabetic neuropathy: An Indian perspective
por: Sharma, S. R., et al.
Publicado: (2008)

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
por: Moravej, Hossein, et al.
Publicado: (2019)

Amelioration of Bleomycin-induced Pulmonary Fibrosis of Rats by an Aldose Reductase Inhibitor, Epalrestat
por: Li, Xianwei, et al.
Publicado: (2015)

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
por: Serrano, Mercedes, et al.
Publicado: (2015)

Unsuccessful intravenous D-mannose treatment in PMM2-CDG
por: Grünert, Sarah C., et al.
Publicado: (2019)

PMM2‐CDG and nephrotic syndrome: A case report
por: Banderali, Giuseppe, et al.
Publicado: (2022)

Recurrent fetal truncus arteriosus associated with PMM2‐CDG
por: Malheiro, Filipa, et al.
Publicado: (2021)

Epalrestat, an Aldose Reductase Inhibitor, Restores Erectile Function in Streptozocin-induced Diabetic Rats
por: Yang, Bai-Bing, et al.
Publicado: (2018)

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals
por: Pascoal, C., et al.
Publicado: (2022)

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
por: Taday, Roman, et al.
Publicado: (2020)

CDG – an update
por: Morava, Eva, et al.
Publicado: (2011)

Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)
por: Sakai, Wataru, et al.
Publicado: (2017)

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
por: Pettinato, Fabio, et al.
Publicado: (2021)

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
por: Witters, Peter, et al.
Publicado: (2021)

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
por: Witters, Peter, et al.
Publicado: (2017)

Renoprotective Effects of Aldose Reductase Inhibitor Epalrestat against High Glucose-Induced Cellular Injury
por: El Gamal, Heba, et al.
Publicado: (2017)

Correction: Epalrestat, an Aldose Reductase Inhibitor, Restores Erectile Function in Streptozocin-induced Diabetic Rats
por: Yang, Bai-Bing, et al.
Publicado: (2019)

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
por: de la Morena-Barrio, Maria E, et al.
Publicado: (2013)

The development of end stage renal disease in two patients with PMM2‐CDG
por: Tiwary, Henna, et al.
Publicado: (2022)

Corrigendum to “Renoprotective Effects of Aldose Reductase Inhibitor Epalrestat against High Glucose-Induced Cellular Injury”
por: El Gamal, Heba, et al.
Publicado: (2019)

Novel role for epalrestat: protecting against NLRP3 inflammasome-driven NASH by targeting aldose reductase
por: Shi, Wei, et al.
Publicado: (2023)

Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis
por: Klaver, Elsenoor J., et al.
Publicado: (2021)

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report
por: Slaba, Katerina, et al.
Publicado: (2020)

Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
por: López-Gálvez, Raquel, et al.
Publicado: (2020)

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
por: García-López, Roberto, et al.
Publicado: (2016)

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
por: Serrano, Natalia Lourdes, et al.
Publicado: (2017)

Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin
por: González-Domínguez, C.A., et al.
Publicado: (2020)

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence
por: Serrano, Mercedes
Publicado: (2021)

How to find and diagnose a CDG due to defective N-glycosylation
por: Lefeber, Dirk J., et al.
Publicado: (2011)

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers
por: Citro, Valentina, et al.
Publicado: (2018)

Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
por: García-López, Roberto, et al.
Publicado: (2016)

Stratified analyses for selecting appropriate target patients with diabetic peripheral neuropathy for long-term treatment with an aldose reductase inhibitor, epalrestat
por: Hotta, N, et al.
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_1fmhr6a05ija1810m99k2e8gu0