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Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B
TLDR
The endosomal sorting complex required for transport (ESCRT) machinery, including ESCRT-III, localizes to the midbody and participates in the membrane-abscission step of cytokinesis and reveals a specific, high-affinity complex involving a noncanonical binding site between the first and third helices of the MIT domain.
SPG20 Protein Spartin Is Recruited to Midbodies by ESCRT-III Protein Ist1 and Participates in Cytokinesis
This study demonstrates that the SPG20 hereditary spastic paraplegia protein spartin interacts with the ESCRT-III protein Ist1. This interaction is required for completion of the abscission phase of
The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy.
TLDR
It is demonstrated that only a subset of CB functions are impaired in SMA cells and, importantly, the decrease of Nopp140 localization in CBs as a phenotypic marker for SMA is identified.
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
TLDR
This study expands the genetics of autosomal dominant HSP and is the first, to the authors' knowledge, to link mutation in CPT1C with a human disease and supports a role for altered lipid-mediated signal transduction in HSP pathogenesis.
Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells
TLDR
The results indicate that direct and indirect mechanisms regulate localization of SMN in Cajal bodies, and that intranuclear snRNA organization is modified in disease.
Spastin-Interacting Protein NA14/SSNA1 Functions in Cytokinesis and Axon Development
TLDR
It is postulate that NA14 may act as an adaptor protein regulating spastin localization to centrosomes, temporally and spatially regulating the microtubule-severing activity of spASTin that is particularly critical during the cell cycle and neuronal development.
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11
TLDR
SPG15 and SPG11 are clinically similar, autosomal recessive disorders characterized by progressive spastic paraplegia along with thin corpus callosum, white matter abnormalities, cognitive impairment, and ophthalmologic abnormalities.
A role for protein phosphatase PP1&ggr; in SMN complex formation and subnuclear localization to Cajal bodies
TLDR
It is shown that SMN deficiency in SMA leads to the aberrant subcellular localization of Gemin8 and PP1&ggr; in the atrophic skeletal muscles, suggesting that the function of PP1 &ggR; is likely to be affected in disease.
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease
TLDR
A high yield, easy-to-culture mouse neuronal cell model with nearly complete glucocerebrosidase deficiency representative of Gaucher disease and provides a much-needed tool to study the pathophysiology of Gauchers disease and to evaluate new therapies.
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