Sarika Srivastava

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Publications (23)

• Complete loss of the X-linked gene CASK causes severe cerebellar degeneration.
  Journal of medical genetics 2022 DOI: 10.1136/jmedgenet-2021-108115
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• The Non-Linear Path from Gene Dysfunction to Genetic Disease: Lessons from the MICPCH Mouse Model
  Cells 2022 DOI: 10.3390/cells11071131
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• Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.
  Molecular genetics & genomic medicine 2020 DOI: 10.1002/mgg3.1426
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• Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways.
  Experimental neurology 2020 DOI: 10.1016/j.expneurol.2020.113319
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• Emerging Insights into the Metabolic Alterations in Aging Using Metabolomics.
  Metabolites 2019 DOI: 10.3390/metabo9120301
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• Quantitative Variation in m.3243A > G Mutation Produce Discrete Changes in Energy Metabolism.
  Scientific reports 2019 DOI: 10.1038/s41598-019-42262-2
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• Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
  Human genetics 2018 DOI: 10.1007/s00439-018-1874-3
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• The Mitochondrial Basis of Aging and Age-Related Disorders.
  Genes 2017 DOI: 10.3390/genes8120398
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• Probing Protein Kinase-ATP Interactions Using a Fluorescent ATP Analog.
  Methods in molecular biology (Clifton, N.J.) 2017 DOI: 10.1007/978-1-4939-7201-2_11
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• X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner.
  Acta neuropathologica communications 2016 DOI: 10.1186/s40478-016-0295-6
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