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Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2

Nathalie Escande‐Beillard, Abigail Loh, Sahar N. Saleem, Kohei Kanata, Yui Hashimoto, Umut Altunoğlu, Artina Metoska, Joanes Grandjean, Fui Mee Ng, Oz Pomp, Nithya Baburajendran, Joyner Wong, Jeffrey Hill, Emmanuel Beillard, Patrick J. Cozzone, Maha S. Zaki, Hülya Kayserili, Hiroshi Hamada, Hidetaka Shiratori, Bruno Reversade

2020Neuron44 citationsDOIOpen Access PDF

Topics & Concepts

GlycineNeurodegenerationMicrocephalyMutantGene knockdownBiologyCell biologyMutationPoint mutationNeuroscienceEndocrinologyBiochemistryInternal medicineGeneticsAmino acidMedicineGeneDiseaseGenetics and Neurodevelopmental DisordersUbiquitin and proteasome pathwaysRNA modifications and cancer
Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2 | Litcius