PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients

Hom ozygous variants in the peptidyl-tRNA hydrolase 2 gene (PTRH2) cause infantile-onset multisystem neurologic, endocrine, and pancreatic disease. The objective is to delineate the mechanisms underlying the core cerebellar phenotype in this disease. For this, we generated constitutive (Ptrh2LoxPxhC...

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Detalles Bibliográficos
Autores principales: Picker-Minh, Sylvie, Luperi, Ilaria, Ravindran, Ethiraj, Kraemer, Nadine, Zaqout, Sami, Stoltenburg-Didinger, Gisela, Ninnemann, Olaf, Hernandez-Miranda, Luis R., Mani, Shyamala, Kaindl, Angela M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10657312/
https://www.ncbi.nlm.nih.gov/pubmed/36219306
http://dx.doi.org/10.1007/s12311-022-01488-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10657312/
https://www.ncbi.nlm.nih.gov/pubmed/36219306
http://dx.doi.org/10.1007/s12311-022-01488-z

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