ArticleJournal of inherited metabolic disease2017
Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency.
Article in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Primary ovarian insufficiency in Classic Galactosemia: a systematic review.Journal of endocrinological investigation · 2025Pooled it
- Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.Journal of inherited metabolic disease · 2020Pooled it
- PDK1-mediated PI3K/Akt signaling regulates metabolic and developmental programs in a cosmopolitan pest.Pest management science · 2026Article
- Experimental Galactose-1-Phosphate Uridylyltransferase (GALT) mRNA Therapy Improves Motor-Related Phenotypes in a Mouse Model of Classic Galactosemia-A Pilot Study.Biomedicines · 2025Article
- Galactose Impairs Motor Performance and Cerebellar Signaling in Young Male Wistar Rats.Molecular neurobiology · 2025Article
- Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia.Journal of inherited metabolic disease · 2025Article
- Epalrestat Alleviates Reactive Oxygen Species and Endoplasmic Reticulum Stress by Maintaining Glycosylation in IMS32 Schwann Cells Under Exposure to Galactosemic Conditions.International journal of molecular sciences · 2025Article
- Single-cell transcriptomics reveals mechanisms ofFrontiers in cell and developmental biology · 2025Article
- Early postnatal alterations in follicular stress response and survival in a mouse model of Classic Galactosemia.Journal of ovarian research · 2022Article
- Harnessing the Power of Purple Sweet Potato Color andInternational journal of molecular sciences · 2022Article
- Pathophysiology and management of classic galactosemic primary ovarian insufficiency.Reproduction & fertility · 2021Review
- A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism.Journal of inherited metabolic disease · 2020Article
- Salubrinal enhances eIF2α phosphorylation and improves fertility in a mouse model of Classic Galactosemia.Biochimica et biophysica acta. Molecular basis of disease · 2019Article
- Impaired fertility and motor function in a zebrafish model for classic galactosemia.Journal of inherited metabolic disease · 2018Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Despite adequate dietary management, patients with classic galactosemia continue to have increased risks of cognitive deficits, speech dyspraxia, primary ovarian insufficiency, and abnormal motor development. A recent evaluation of a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model revealed reduced fertility and growth restriction. These phenotypes resemble those seen in human patients. In this study, we further assess the fidelity of this new mouse model by examining the animals for the manifestation of a common neurological sequela in human patients: cerebellar ataxia. The balance, grip strength, and motor coordination of GALT-deficient and wild-type mice were tested using a modified rotarod. The results were compared to composite phenotype scoring tests, typically used to evaluate neurological and motor impairment. The data demonstrated abnormalities with varying severity in the GALT-deficient mice. Mice of different ages were used to reveal the progressive nature of motor impairment. The varying severity and age-dependent impairments seen in the animal model agree with reports on human patients. Finally, measurements of the cerebellar granular and molecular layers suggested that mutant mice experience cerebellar hypoplasia, which could have resulted from the down-regulation of the PI3K/Akt signaling pathway.
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