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Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia
TLDR
The results implicate failure of the ER–endosome contact process in axonopathy and suggest that coupling of ER-mediated endosomal tubule fission to lysosome function links different classes of HSP proteins into a unifying pathway for axonal degeneration. Expand
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
TLDR
Partial SPAST deletions, but not SPAST amplifications and SPG3A copy number aberrations, represent an underestimated cause of autosomal dominant hereditary spastic paraplegia. Expand
A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System
TLDR
The morphological analysis reveals axon degeneration and progressive loss of both cortical motoneurons and Purkinje cells in the cerebellum, which suggests neuron loss is preceded by accumulation of large intraneuronal deposits of membrane-surrounded material, which co-stains with the lysosomal marker Lamp1. Expand
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
TLDR
It is demonstrated convincing evidence that SUFU mutations can cause classical Gorlin syndrome, and childhood brain magnetic resonance imaging surveillance is justified in SUFU-related, but not PTCH1- related, Gorlin Syndrome. Expand
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
TLDR
This study connects proper neuronal ER architecture to long-term axon survival in hereditary spastic paraplegia patients and demonstrates that REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the ER. Expand
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure
TLDR
A unique link between altered ER architecture and neurodegeneration is provided and two siblings who have the unusual combination of early-onset spastic paraplegia, optic atrophy, and neuropathy are presented. Expand
Expression of ether à go-go potassium channels in human gliomas
TLDR
The findings suggest a differential expression of hEAG1 and hERG1 in gliomas depending on the malignancy grade and nature of the tumor cells, which supports the hypothesis that EAG channels are related to the oncogenic process itself. Expand
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
TLDR
The coding region and exon-intron boundaries of the CYP7B1 gene were analysed by direct sequencing in a series of 82 unrelated autosomal recessive hereditary spastic paraplegia index patients, manifesting either a pure or a complex form of the disease, and in 90 unrelated index patients with sporadic pure hereditary spasia. Expand
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
TLDR
The distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of neurodegenerative disorders affecting the lower motoneuron and whole-exome sequencing of two affected individuals revealed a single candidate variant within the linking regions, corroborate the loss-of-function nature of REEP1 mutations in HSP and suggest that a different mechanism applies in REEP 1-associated dHMN. Expand
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11
TLDR
It is reported that disruption of Spatacsin in mice indeed causes hereditary spastic paraplegia-like phenotypes with loss of cortical neurons and Purkinje cells and a defect of autophagic lysosome reformation. Expand
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