Mario Saporta

SynTEF1 restores the functional disease phenotype of SCA27B in an hiPSC-derived neuronal model

This study shows that SynTEF1 restores FGF14 expression and neuronal function in SCA27B patient-derived neurons.

Genetic ancestry and population structure in the All of Us Research Program cohort

The paper analyzes genetic ancestry and population structure in the All of Us Research Program cohort, revealing diverse ancestry patterns and population structure.

Somatic instability of the FGF14-SCA27B GAA·TTC repeat reveals a marked expansion bias in the cerebellum

This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.

Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

This study generates a Sord knockout rat model to study SORD deficiency, revealing motor-predominant neuropathy with elevated sorbitol and neurofilament light chain levels.

Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy: A new mechanism for motor neuron degeneration.

The paper identifies a novel gene-intergenic fusion in UBE3C causing dHMN and demonstrates its pathogenic effects using patient-derived models and a C. elegans transgenic system.

Allele-specific gene editing rescues pathology in a human model of Charcot-Marie-Tooth disease type 2E

This paper demonstrates allele-specific CRISPR gene editing in a human CMT2E model rescues disease pathology by inactivating the mutant NEFL allele.