Proteomic analysis of induced human motor neurons revealed a markedly enhanced association between ΔE and exportin 1 (XPO1), a major nuclear export receptor, and an abnormally enhanced interaction between mutant TorsinA and exportin 1 (XPO1), a protein that transports cargo from the nucleus.
A comprehensive evaluation of the VPS35 protein interactome is provided and a selective effect of the PD-linked D620N mutation in mammalian cells and brain is revealed, providing key insight into the mechanisms of retromer dysfunction in VPS35-linked PD.
Erin T. Williams, Maxwell Frye, Xi Chen et al.· Neurobiology of Disease· 0 citations
The conserved membrane protein Chloride Channel CLIC-like protein 1 (CLCC1) is identified as a Torsin1A interaction partner whose absence phenocopies membrane fusion defects caused by Torsin deletion inform a model of nuclear envelope membrane fusion and imply that modulating CLCC1 expression is a promising therapeutic...
D. Maslennikova, Harry J. M. Baird, Xinyue Ding et al.· Molecules and Cells· 3 citations· ⚡1
The first functional characterization of the cardiomyopathy-associated SMYD1 N101S variant identified in a child with severe infantile cardiomyopathy is provided, establishing a mechanistic link between SMYD1 dysfunction and infantile cardiomyopathy and highlighting the importance of integrating genomic and functional...
Marta W. Szulik, Clint Gwynn, Magnus Creed et al.· bioRxiv· 0 citations
A CHCH–helix interface is defined that couples homo- and heterotypic assembly equilibria and support an asymmetric interface-buffering model in which CHCHD10 can divert TDP-43CTD from self-association while increasing its own availability for recruitment into sedimentable assemblies.
Karen S. Alarcón-Morales, Sara Pozo, Mauro Aguilera-Toste et al.· bioRxiv· 0 citations
These findings highlight the PRD’s contribution to HD toxicity and point to MKL2/MRTFB and the cytoskeleton and transcriptional coactivator MKL2/MRTFB and the cytoskeleton as candidate mediators.
R. Iennaco, Camilla Maffezzini, Simone Maestri et al.· bioRxiv· 1 citation
Tetratricopeptide Repeat Domain 14 plays a crucial role in RNA metabolism during neurodevelopment, and that the p.His30Arg variant impairs its function, possibly leading to a neurodevelopmental disorder within the lissencephaly spectrum.
S. R. Ahmad, Md Zeyaullah, Mohammad Suhail Khan et al.· Human Genetics· 0 citations
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