Atlastin-1 regulates endosomal tubulation and lysosomal proteolysis in human cortical neurons.

Mutation of the ATL1 gene is one of the most common causes of hereditary spastic paraplegia (HSP), a group of genetic neurodegenerative conditions characterised by distal axonal degeneration of the corticospinal tract axons. Atlastin-1, the protein encoded by ATL1, is one of three mammalian atlastins, which are homologous dynamin-like GTPases that control endoplasmic reticulum (ER) morphology by fusing tubules to form the three-way junctions that characterise ER networks. However, it is not clear whether atlastin-1 is required for correct ER morphology in human neurons and if so what the functional consequences of lack of atlastin-1 are.

Potential drivers of the recent large Antarctic ozone holes.

The past three years (2020-2022) have witnessed the re-emergence of large, long-lived ozone holes over Antarctica. Understanding ozone variability remains of high importance due to the major role Antarctic stratospheric ozone plays in climate variability across the Southern Hemisphere. Climate change has already incited new sources of ozone depletion, and the atmospheric abundance of several chlorofluorocarbons has recently been on the rise.

AP-4 regulates neuronal lysosome composition, function, and transport via regulating export of critical lysosome receptor proteins at the trans-Golgi network.

The adaptor protein complex-4 or AP-4 is known to mediate autophagosome maturation through regulating sorting of transmembrane cargo such as ATG9A at the Golgi. There is a need to understand AP-4 function in neurons, as mutations in any of its four subunits cause a complex form of hereditary spastic paraplegia (HSP) with intellectual disability. While AP-4 has been implicated in regulating trafficking and distribution of cargo such as ATG9A and APP, little is known about its effect on neuronal lysosomal protein traffic, lysosome biogenesis, and function.

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

The endosomal sorting complexes required for transport (ESCRTs) are essential for multiple membrane modeling and membrane-independent cellular processes. Here we describe six unrelated individuals with de novo missense variants affecting the ATPase domain of VPS4A, a critical enzyme regulating ESCRT function. Probands had structural brain abnormalities, severe neurodevelopmental delay, cataracts, growth impairment, and anemia.

Laparoscopic bowel resection in the presence of a lumbo-peritoneal shunt: a rare case.

The presence of a cerebrospinal fluid (CSF) shunt was previously considered a contra-indication to laparoscopic surgery, however, case reports appeared that describe laparoscopic surgery proceeding with no adverse outcomes in such patients. The majority of these reports relate to laparoscopic cholecystectomy. Here we present what we believe to be only the second report of a patient undergoing laparoscopic bowel resection in the presence of a lumbo-peritoneal shunt.