SPINAL MUSCULAR ATROPHY: MUTATION AND FUNCTIONAL ANALYSIS OF THE SURVIVAL MOTOR NEURON GENE AND ITS PROTEIN PRODUCT

Pubblicazioni Scientifiche

• AMINO ACIDS

  Excitatory amino acid stimulation of the survival of rat cerebellar granule cells in culture is associated with an increase in SMN, the spinal muscular atrophy disease gene product

• EUROPEAN JOURNAL OF HUMAN GENETICS

  SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype

• HUMAN MOLECULAR GENETICS

  Detection of the survival motor neuron (SMN) genes by FISH:: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients

• NEUROGENETICS

  The drastic reduction of SMN protein in SMA I spinal cord motor neurons is not due to inefficient transcription