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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
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 
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
UnknownClinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6.
Not available
S-EPMC9024055 | biostudies-literature
UnknownAutosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
Not available
S-EPMC2492855 | biostudies-literature
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 
UnknownSpastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.
Not available
S-EPMC6978395 | biostudies-literature
UnknownTwo novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran.
Not available
S-EPMC9576469 | biostudies-literature
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