Carlo Sala on Muck Rack

Carlo Sala

As seen in: Blasting News, Nature, Wiley Online Library, JNeurosci, Today.it, Artribune, Mondaq, SoldiOnline.it
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Articles

ALS Mutations Shift the Isoelectric Point of the KIF5A C Terminal Inducing Protein Aggregation and TDP-43 Mislocalization

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By Isabel Loss, Carlo Sala, Tobias M. Boeckers, Alberto Catanese
| JNeurosci
aggregation ALS isoelectric point KIF5A TDP-43 Significance Statement Amyotrophic lateral sclerosis is a lethal neurodegenerative disease to which no cure is still known. Heterogeneous genes have been causally linked to ALS, yet, the exact pathomechanism responsible for neuronal death remains unclear. One such gene is KIF5A which encodes for a neuronally enriched kinesin. Identified mutations cause incorrect mRNA splicing resulting in an aberrant C-terminal aminoacidic sequence.
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Preface to the Special Issue “Autism Spectrum Disorder: From Genes to Therapies”

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By Carlo Sala
| Wiley Online Library
ASD autism spectrum disorders BDNF brain-derived neurotrophic factor CDC US Centers for Disease Control and Prevention DAT dopamine transporter GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 GWAS genome-wide association studies ID intellectual disability IL-4 interleukin-4 NSF N-ethylmaleimide-sensitive fusion protein PAFR platelet-activating factor receptor PSD-95 postsynaptic density protein 95 TH tyrosine hydroxylase VPA valproic acid Autism spectrum disorder (ASD) is a...
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Shank3 modulates Rpl3 expression and protein synthesis via mGlu5: implications for Phelan McDermid syndrome - Molecular Psychiatry

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By Antonio G. Zippo, Tobias M. Boeckers, Carlo Sala, Mariaelvina Sala
| Nature
Abstract Mutations or deletions in the SHANK3 gene have been identified in up to 1% of autism spectrum disorder cases and are considered the primary cause of neuropsychiatric symptoms in Phelan McDermid syndrome (PMS). While synaptic dysfunctions have been extensively documented in the absence of Shank3, other mechanisms through which Shank3 may regulate neuronal functions remain unclear.
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