Vittorio Maglione

TL;DR: A novel gene, MGC4607, exhibits eight different mutations in nine families with type 2 CCM (CCM2), similar to the KRIT1 binding partner ICAP1alpha, and may be part of the complex pathway of integrin signaling that causes abnormal vascular morphogenesis in the brain, leading to CCM formation.

TL;DR: Differences in the disease features between eight homozygotes and 75 heterozygotes for the Huntington disease mutation point to the possibility that the mechanisms underlying age at onset and disease progression in Huntington disease may differ, and suggest that the phenotype and the rate of disease progression may differ.

TL;DR: It is reported that intraventricular infusion of ganglioside GM1 induces phosphorylation of mutant huntingtin at specific serine amino acid residues that attenuate huntingtin toxicity, and restores normal motor function in already symptomatic HD mice.

TL;DR: This work has discovered that synthesis of the ganglioside GM1 is reduced in fibroblasts from HD patients and in cell and animal models of HD, and that decreased GM1 levels contribute to heighten HD cell susceptibility to apoptosis.

TL;DR: It is reported here that sequence analysis of PDCD10 in a panel of 29 probands lacking Krit1 and MGC4607 mutations revealed only three mutations, which is surprisingly low.