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ProteomicsHyperactivity of the non-canonical inflammasome promotes neuroinflammation in Hereditary Spastic Paraplegia type SPG11 and SPG48
Hereditary spastic paraplegia (HSP) is characterized by a spastic gait disorder due to degeneration of corticospinal axons. The genetics of this disease is highly heterogeneous with more than 80 different genes involved which are denoted as SPGs. Variants in SPG11 are responsible for the most common...
ORGANISM(S): Mus musculus (Mouse) 
2025-11-11 | PXD065699 | Pride
Neuroinflammation Bone marrow derived macrophages Spg48 Spg11 
ProteomicsStructural basis for membrane remodelling by the AP5:SPG11-SPG15 complex
The human spastizin (spastic paraplegia 15, SPG15) and spatacsin (spastic paraplegia 11, SPG11) complex is involved in the formation of lysosomes, and mutations in these two proteins are linked with hereditary autosomal recessive spastic paraplegia (HSP). SPG11-SPG15 can cooperate with the fifth ada...
ORGANISM(S): Homo sapiens (Human) 
2025-03-20 | PXD054972 | Pride
Xl-ms Lc-ms 
GenomicsSPG11 organoids reveal lysosomal calcium regulation of neural progenitor proliferation
SPG11 organoids reveal lysosomal calcium regulation of neural progenitor proliferation
PRJNA1304967 | ENA
GenomicsCompound heterozygous mutations in SPG11 revealed by WGS
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region mutation and known pathogenic mutation in SPG11
PRJEB14049 | ENA
TranscriptomicsSPG11 organoids reveal lysosomal calcium regulation of neural progenitor proliferation
Lysosome dysfunction has been widely implicated in many models of neurodegeneration, but much less is understood of its involvement during brain development in health and disease. Hereditary spastic paraplegia caused by mutations in the SPG11 gene is a neurodevelopmental and neurodegenerative disord...
ORGANISM(S): Homo sapiens 
2026-05-29 | GSE305269 | GEO
TranscriptomicsHereditary spastic paraplegia (HSP) gene 11 (SPG11) attenuates lipid accumulation in myeloid cells and neuroinflammation independent of α-synuclein pathology
Hereditary spastic paraplegia type 11 (HSP-SPG11) is a neurodegenerative disorder caused by mutations in SPG11, which encodes the large scaffolding protein spatacsin, involved in lysosomal and autophagosomal trafficking. A portion of patients with SPG11 mutations show overlapping clinical presentati...
ORGANISM(S): Mus musculus 
2026-06-26 | GSE324086 | GEO
GenomicsHereditary spastic paraplegia (HSP) gene 11 (SPG11) attenuates lipid accumulation in myeloid cells and neuroinflammation independent of α-synuclein pathology
Hereditary spastic paraplegia (HSP) gene 11 (SPG11) attenuates lipid accumulation in myeloid cells and neuroinflammation independent of α-synuclein pathology
PRJNA1433411 | ENA
UnknownSevere axonal neuropathy is a late manifestation of SPG11.
Not available
S-EPMC5065903 | biostudies-literature
UnknownHyperactivity of the non-canonical inflammasome in SPG11 and SPG48.
Not available
S-EPMC12595280 | biostudies-literature
UnknownTideglusib Rescues Neurite Pathology of SPG11 iPSC Derived Cortical Neurons.
Not available
S-EPMC6291617 | biostudies-literature
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