Cargando…

Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia

Messenger RNA (mRNA) has emerged as a novel therapeutic approach for inborn errors of metabolism. Classic galactosemia (CG) is an inborn error of galactose metabolism caused by a severe deficiency of galactose‐1‐phosphate:uridylyltransferase (GALT) activity leading to neonatal illness and chronic im...

Descripción completa

Detalles Bibliográficos
Autores principales:	Delnoy, Britt, Haskovic, Minela, Vanoevelen, Jo, Steinbusch, Laura K. M., Vos, Esther Naomi, Knoops, Kèvin, Zimmermann, Luc J. I., Noga, Marek, Lefeber, Dirk J., Martini, Paolo G. V., Coelho, Ana I., Rubio‐Gozalbo, Maria Estela
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9541528/ https://www.ncbi.nlm.nih.gov/pubmed/35527402 http://dx.doi.org/10.1002/jimd.12512

Ejemplares similares

Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish
por: Haskovic, Minela, et al.
Publicado: (2020)

Current and Future Treatments for Classic Galactosemia
por: Delnoy, Britt, et al.
Publicado: (2021)

Impaired fertility and motor function in a zebrafish model for classic galactosemia
por: Vanoevelen, Jo M., et al.
Publicado: (2017)

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models
por: Haskovic, Minela, et al.
Publicado: (2020)

Ovarian function in girls and women with GALT-deficiency galactosemia
por: Fridovich-Keil, Judith L., et al.
Publicado: (2010)

Sweet and sour: an update on classic galactosemia
por: Coelho, Ana I., et al.
Publicado: (2017)

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia
por: Haskovic, Minela, et al.
Publicado: (2018)

Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects
por: Haskovic, M., et al.
Publicado: (2018)

The hypergonadotropic hypogonadism conundrum of classic galactosemia
por: Derks, Britt, et al.
Publicado: (2022)

Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia
por: van Erven, Britt, et al.
Publicado: (2017)

FSH isoform pattern in classic galactosemia
por: Gubbels, Cynthia S., et al.
Publicado: (2010)

Psychosocial developmental milestones in men with classic galactosemia
por: Gubbels, Cynthia Sophia, et al.
Publicado: (2011)

From Mind to Mouth: Event Related Potentials of Sentence Production in Classic Galactosemia
por: Timmers, Inge, et al.
Publicado: (2012)

Fertility preservation in female classic galactosemia patients
por: van Erven, Britt, et al.
Publicado: (2013)

The challenges of classical galactosemia: HRQoL in pediatric and adult patients
por: Hermans, Merel E., et al.
Publicado: (2023)

High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia
por: Li, Lulu, et al.
Publicado: (2020)

White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging
por: Timmers, Inge, et al.
Publicado: (2014)

Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion
por: Gubbels, Cynthia S., et al.
Publicado: (2012)

The natural history of classic galactosemia: lessons from the GalNet registry
por: Rubio-Gozalbo, M. E., et al.
Publicado: (2019)

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
por: Welsink-Karssies, Mendy M., et al.
Publicado: (2020)

Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified
por: Rokaitė, Rūta, et al.
Publicado: (2020)

Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia
por: Daenzer, Jennifer M. I., et al.
Publicado: (2022)

Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions
por: Timmers, Inge, et al.
Publicado: (2011)

Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
por: Welsink-Karssies, Mendy M., et al.
Publicado: (2020)

Functional analysis of GALT variants found in classic galactosemia patients using a novel cell‐free translation method
por: Canson, Daffodil M., et al.
Publicado: (2019)

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers
por: Welsink-Karssies, Mendy M, et al.
Publicado: (2020)

Classic galactosemia: dietary dilemmas
por: Bosch, Annet M.
Publicado: (2010)

Puberty and fertility in classic galactosemia
por: Flechtner, Isabelle, et al.
Publicado: (2021)

Simulation of the Interactions of Arginine with Wild-Type GALT Enzyme and the Classic Galactosemia-Related Mutant p.Q188R by a Computational Approach
por: Verdino, Anna, et al.
Publicado: (2021)

Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease
por: Cocanougher, Benjamin, et al.
Publicado: (2015)

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
por: Welling, Lindsey, et al.
Publicado: (2016)

Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake
por: Treacy, Eileen P., et al.
Publicado: (2021)

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure (†)
por: Grama, Alina, et al.
Publicado: (2019)

Functional and structural impact of the most prevalent missense mutations in classic galactosemia
por: Coelho, Ana I, et al.
Publicado: (2014)

Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia
por: Cocanougher, Benjamin, et al.
Publicado: (2015)

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life
por: ten Hoedt, Amber E., et al.
Publicado: (2011)

GALT Protein Database, a Bioinformatics Resource for the Management and Analysis of Structural Features of a Galactosemia-related Protein and Its Mutants
por: d’Acierno, Antonio, et al.
Publicado: (2009)

Transient Cytopenias as a Rare Presentation of Classic Galactosemia
por: Gianniki, Maria, et al.
Publicado: (2022)

Cognitive functioning in patients with classical galactosemia: a systematic review
por: Hermans, Merel E., et al.
Publicado: (2019)

The 1‐(13)C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes
por: Welsink‐Karssies, Mendy M., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_arl2ubrr42smcka6kdffqg06c3