The molecular mechanisms underlying the homeostatic modulation of presynaptic neurotransmitter release are largely unknown. We have previously used an electrophysiology-based forward genetic screen to assess the function of >400 neuronally expressed genes for a role in the homeostatic control of synaptic transmission at the neuromuscular junction of Drosophila melanogaster. This screen identifi...

The dystrophin-associated protein complex (DPC) is required for the maintenance of muscle integrity during the mechanical stresses of contraction and relaxation. In addition to providing a membrane scaffold, members of the DPC such as the alpha-dystrobrevin protein family are thought to play an important role in intracellular signal transduction. To gain additional insights into the function of...

Emilio Sacchetti ([email protected]) Catia Scassellati ([email protected]) Alessandra Minelli ([email protected]) Paolo Valsecchi ([email protected]) Cristian Bonvicini ([email protected]) Patrizio Pasqualetti ([email protected]) Alessandro Galluzzo ([email protected]) Rosaria Pioli ([email protected]) Massimo G...

Emilio Sacchetti ([email protected]) Catia Scassellati ([email protected]) Alessandra Minelli ([email protected]) Paolo Valsecchi ([email protected]) Cristian Bonvicini ([email protected]) Patrizio Pasqualetti ([email protected]) Alessandro Galluzzo ([email protected]) Rosaria Pioli ([email protected]) Massimo G...

Many genes implicated in schizophrenia can be related to glutamatergic transmission and neuroplasticity, oligodendrocyte function, and other families clearly related to neurobiology and schizophrenia phenotypes. Others appear rather to be involved in the life cycles of the pathogens implicated in the disease. For example, aspartylglucosaminidase (AGA), PLA2, SIAT8B, GALNT7, or B3GAT1 metabolize...

BACKGROUND Nineteen patients with deletions in chromosome 6p22-p24 have been published so far. The syndromic phenotype is varied, and includes intellectual disability, behavioural abnormalities, dysmorphic features and structural organ defects. Heterogeneous deletion breakpoints and sizes (1-17 Mb) and overlapping phenotypes have made the identification of the disease causing genes challenging....

NCI-NHGRI Working Group on Replication in Association Studies The study of human genetics has recently undergone a dramatic transition with the com­ pletion of both the sequencing of the human genome and the mapping of human haplo­ types of the most common form of genetic variation, the single nucleotide polymorphism (SNP). In concert with this rapid expansion of detailed genomic information, c...

NCI-NHGRI Working Group on Replication in Association Studies The study of human genetics has recently undergone a dramatic transition with the com­ pletion of both the sequencing of the human genome and the mapping of human haplo­ types of the most common form of genetic variation, the single nucleotide polymorphism (SNP). In concert with this rapid expansion of detailed genomic information, c...

Schizophrenia is a complex biological disorder with multifactorial mode of transmission where non-genetic determinants are also play important role. It is now clear that it involves combined effect of many genes, each conferring a small increase in liability to the illness. Thus no causal disease genes or single gene of major effects, only susceptible genes are operating. Given this complexity,...

In their ‘common disease – rare alleles’ hypothesis McClellan et al (2007) come close to formulating an untestable theory. Although they refer to currently fashionable ‘candidate genes’ – e.g. dysbindin, neuregulin and DISC1 – it appears that they do not regard these as established. I agree that there is no consistency in the findings across even the largest genome scans conducted to date (samp...