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ProteomicsAltered turnover of the CNS myelin protein Opalin in a mouse model of hereditary spastic paraplegia 35
Fatty acid 2-hydroxylase (FA2H) is responsible for the synthesis of 2-hydroxylated fatty acids, which are a building block of sphingolipids. This 2-hydroxylated sphingolipids can be found in various tissues such as brain, spinal cord, skin, testis, ovary, kidney, stomach, or intestine with a notably...
ORGANISM(S): Mus musculus (Mouse) 
2021-01-04 | PXD021021 | Pride
Cns Mice Hereditary spastic paraplegia 35 Sphingolipids Neurodegeneration Disease model Fa2h Tmt Time course Myelin Fatty acid hydroxylation Isobaric labeling Fatty acid 2-hydroxylase Opalin 
ProteomicsSpastin recovery in hereditary spastic paraplegia by preventing neddylation-dependent degradation
Hereditary Spastic Paraplegia (HSP) is a neurodegenerative disease most commonly caused by autosomal dominant mutations in the SPG4 gene encoding the microtubule severing protein spastin. We hypothesise that SPG4-HSP is attributable to reduced spastin function due to haploinsufficiency, thus therape...
ORGANISM(S): Bos taurus (Bovine) Homo sapiens (Human) 
2020-10-22 | PXD021945 | Pride
Ubiquitination Spastin Hipk2 Spg4-hsp Protesomal degradation 
UnknownSPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
Not available
S-EPMC2730021 | biostudies-literature
MetabolomicsER fusogens maintain membrane reservoir to ensure brain function
How the morphological dynamics of the endoplasmic reticulum (ER) are linked to its functions is unclear. Atlastins (ATLs), a class of GTPases, mediate ER fusion, and human mutations in ATL1 cause hereditary spastic paraplegia (HSP). Here, we show that ATL2-knockout mice are embryonic lethal with com...
2026-07-08 | MTBLS14970 | MetaboLights
UnknownHereditary spastic paraplegia type 35 in a family from Mali.
Not available
S-EPMC6557683 | biostudies-literature
ProteomicsAge-dependent increase in Schmidt-Lanterman incisures and a Cadm4 associated membrane skeletal complex in fatty acid 2-hydroxylase deficient mice, a mouse model of spastic paraplegia SPG35
Fatty acid 2-hydroxylase (FA2H) is responsible for the synthesis of 2-hydroxylated fatty acids, which are a building block of sphingolipids. This 2-hydroxylated sphingolipids can be found in various tissues such as brain, spinal cord, skin, testis, ovary, kidney, stomach, or intestine with a notably...
ORGANISM(S): Mus musculus (Mouse) 
2022-04-22 | PXD030244 | Pride
Isobaric labelling Schmidt-lanterman incisures Mice Hereditary spastic paraplegia type 35 Sphingolipids Neurodegeneration Sciatic nerves Disease model Fa2h Tmt Time course Myelin Fatty acid hydroxylation Pns Fatty acid 2-hydroxylase 
UnknownHereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Not available
S-EPMC5841036 | biostudies-literature
UnknownCopy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review.
Not available
S-EPMC10697729 | biostudies-literature
UnknownAutosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
Not available
S-EPMC2492855 | biostudies-literature
UnknownBrain white matter involvement in hereditary spastic paraplegias: analysis with multiple diffusion tensor indices.
Not available
S-EPMC7964451 | biostudies-literature
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