Akizu Laboratory Publications

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Below is a list of selected publications from the Akizu Lab:

Altered lipid homeostasis is associated with cerebellar neurodegeneration in SNX14 deficiency
JCI Insight · April, 2024
KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders
Cell Stem Cell · March, 2024
Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy
Cell Reports Medicine · February, 2024
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
The Journal Of Clinical Investigation · January, 2024
IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency
BioRxiv : The Preprint Server For Biology · January, 2024
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Nature Communications · July, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Science Advances · March, 2023
Multimerization of Zika Virus-NS5 Causes Ciliopathy and Forces Premature Neurogenesis
Cell Stem Cell · December, 2020
EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21
Open Biol · April, 2016
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
Nat Genet · May, 2015
AMPD2 Regulates GTP Synthesis and is Mutated in a Potentially-Treatable Neurodegenerative Brainstem Disorder
Cell · August, 2013
H3K27me3 regulates BMP activity in developing spinal cord
Development · September, 2010