Publications by authors named "V Haucke"

Article Synopsis
  • Communication in the nervous system involves calcium-triggered neurotransmitter release through exocytosis of synaptic vesicles (SVs) at specific sites.
  • Although significant progress has been made in understanding the molecular details of SV fusion, the processes for SV formation during synapse development and their reformation after exocytosis remain less understood.
  • The review highlights current knowledge about SV precursor organelles' formation and transport, critiques the mechanisms of SV reformation in mature neurons, and identifies areas for future research exploration.
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Article Synopsis
  • The text discusses how cellular membrane balance (homoeostasis) is maintained through regulated transport processes between organelles involved in endocytosis and secretion.
  • This process is facilitated by adaptor protein complexes (APs) that are recruited by the small GTPase ARF1, aiding in cargo selection for membrane trafficking.
  • The study identifies two distinct roles of ARF1 compartments in facilitating secretory cargo export from the Golgi and recycling of materials from endosomes, challenging the conventional understanding of vesicle transport.
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Background: Eukaryotic cells are highly compartmentalized by a variety of organelles that carry out specific cellular processes. The position of these organelles within the cell is elaborately regulated and vital for their function. For instance, the position of lysosomes relative to the nucleus controls their degradative capacity and is altered in pathophysiological conditions.

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Purpose: Biallelic INPP4A variants have recently been associated with severe neurodevelopmental disease in single-case reports. Here, we expand and elucidate the clinical-genetic spectrum and provide a pathomechanistic explanation for genotype-phenotype correlations.

Methods: Clinical and genomic investigations of 30 individuals were undertaken alongside molecular and in silico modelling and translation reinitiation studies.

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