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Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
Fink JK. Fink JK. Acta Neuropathol. 2013 Sep;126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. Acta Neuropathol. 2013. PMID: 23897027 Free PMC article. Review.
In general, proteins encoded by HSP genes have diverse functions including (1) axon transport (e.g. SPG30/KIF1A, SPG10/KIF5A and possibly SPG4/Spastin); (2) endoplasmic reticulum morphology (e.g. SPG3A/Atlastin, SPG4/Spastin, SPG12/reticulon 2, and SPG …
In general, proteins encoded by HSP genes have diverse functions including (1) axon transport (e.g. SPG30/KIF1A, SPG10/KIF5A and possibly …
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
Solowska JM, Baas PW. Solowska JM, et al. Brain. 2015 Sep;138(Pt 9):2471-84. doi: 10.1093/brain/awv178. Epub 2015 Jun 20. Brain. 2015. PMID: 26094131 Free PMC article. Review.
Studies on rodents suggest that M1 is only readily detected in adult spinal cord, which is where nerve degeneration mainly occurs in humans with HSP-SPG4. M1, due to its hydrophobic N-terminal domain not shared by M87, may insert into endoplasmic reticulum me …
Studies on rodents suggest that M1 is only readily detected in adult spinal cord, which is where nerve degeneration mainly occurs in humans …
Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons.
Zhu PP, Hung HF, Batchenkova N, Nixon-Abell J, Henderson J, Zheng P, Renvoisé B, Pang S, Xu CS, Saalfeld S, Funke J, Xie Y, Svara F, Hess HF, Blackstone C. Zhu PP, et al. Hum Mol Genet. 2022 Aug 23;31(16):2779-2795. doi: 10.1093/hmg/ddac072. Hum Mol Genet. 2022. PMID: 35348668 Free PMC article.
Common autosomal dominant HSPs are caused by mutations in genes encoding the microtubule-severing ATPase spastin (SPAST; SPG4), the membrane-bound GTPase atlastin-1 (ATL1; SPG3A) and the reticulon-like, microtubule-binding protein REEP1 (REEP1; SPG31). These proteins bind …
Common autosomal dominant HSPs are caused by mutations in genes encoding the microtubule-severing ATPase spastin (SPAST; SPG4), the m …
Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation.
Chang J, Lee S, Blackstone C. Chang J, et al. Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14954-9. doi: 10.1073/pnas.1307391110. Epub 2013 Aug 22. Proc Natl Acad Sci U S A. 2013. PMID: 23969831 Free PMC article.
Although more than 50 genetic loci are known [spastic gait (SPG)1 to -57], over half of hereditary spastic paraplegia cases are caused by pathogenic mutations in four genes encoding proteins that function in tubular endoplasmic reticulum (ER) network formation: atla …
Although more than 50 genetic loci are known [spastic gait (SPG)1 to -57], over half of hereditary spastic paraplegia cases are caused by pa …
Spastin regulates ER-mitochondrial contact sites and mitochondrial homeostasis.
Raby A, Missiroli S, Sanatine P, Langui D, Pansiot J, Beaude N, Vezzana L, Saleh R, Marinello M, Laforge M, Pinton P, Buj-Bello A, Burgo A. Raby A, et al. iScience. 2024 Aug 6;27(9):110683. doi: 10.1016/j.isci.2024.110683. eCollection 2024 Sep 20. iScience. 2024. PMID: 39252960 Free PMC article.
Mitochondria-endoplasmic reticulum (ER) contact sites (MERCs) emerged to play critical roles in numerous cellular processes, and their dysregulation has been associated to neurodegenerative disorders. Mutations in the SPG4 gene coding for spastin are among th …
Mitochondria-endoplasmic reticulum (ER) contact sites (MERCs) emerged to play critical roles in numerous cellular processes, a …
Molecular and cellular mechanisms of spastin in neural development and disease (Review).
Liu Q, Zhang G, Ji Z, Lin H. Liu Q, et al. Int J Mol Med. 2021 Dec;48(6):218. doi: 10.3892/ijmm.2021.5051. Epub 2021 Oct 19. Int J Mol Med. 2021. PMID: 34664680 Free PMC article. Review.
In addition, recent research has revealed multiple novel molecular mechanisms of spastin in cellular biological pathways, including endoplasmic reticulum shaping, calcium trafficking, fatty acid trafficking, as well as endosomal fission and trafficking. ...
In addition, recent research has revealed multiple novel molecular mechanisms of spastin in cellular biological pathways, including endop …
Naringenin Ameliorates Drosophila ReepA Hereditary Spastic Paraplegia-Linked Phenotypes.
Napoli B, Gumeni S, Forgiarini A, Fantin M, De Filippis C, Panzeri E, Vantaggiato C, Orso G. Napoli B, et al. Front Neurosci. 2019 Nov 19;13:1202. doi: 10.3389/fnins.2019.01202. eCollection 2019. Front Neurosci. 2019. PMID: 31803000 Free PMC article.
Defects in the endoplasmic reticulum (ER) membrane shaping and interaction with other organelles seem to be a crucial mechanism underlying Hereditary Spastic Paraplegia (HSP) neurodegeneration. REEP1, a transmembrane protein belonging to TB2/HVA22 family, is implica …
Defects in the endoplasmic reticulum (ER) membrane shaping and interaction with other organelles seem to be a crucial mechanis …
Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms.
Julien C, Lissouba A, Madabattula S, Fardghassemi Y, Rosenfelt C, Androschuk A, Strautman J, Wong C, Bysice A, O'sullivan J, Rouleau GA, Drapeau P, Parker JA, Bolduc FV. Julien C, et al. Hum Mol Genet. 2016 Mar 15;25(6):1088-99. doi: 10.1093/hmg/ddv632. Epub 2016 Jan 6. Hum Mol Genet. 2016. PMID: 26744324 Free PMC article.
Despite the recent explosion in genetic knowledge, HSP remains without pharmacological treatment. Loss-of-function mutation of the SPAST gene, also known as SPG4, is the most common cause of HSP in patients. SPAST is conserved across animal species and regulates microtubul …
Despite the recent explosion in genetic knowledge, HSP remains without pharmacological treatment. Loss-of-function mutation of the SPAST gen …
Functional differences of short and long isoforms of spastin harboring missense mutation.
Plaud C, Joshi V, Kajevu N, Poüs C, Curmi PA, Burgo A. Plaud C, et al. Dis Model Mech. 2018 Sep 10;11(9):dmm033704. doi: 10.1242/dmm.033704. Dis Model Mech. 2018. PMID: 30213879 Free PMC article.
Mutations of the SPG4 (SPAST) gene encoding for spastin protein are the main causes of hereditary spastic paraplegia. ...However, only mutated M1 has the ability to interact with wild-type M1, and decorates a subset of perinuclear microtubules associated with the endopl …
Mutations of the SPG4 (SPAST) gene encoding for spastin protein are the main causes of hereditary spastic paraplegia. ...However, onl …
Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.
Renvoisé B, Malone B, Falgairolle M, Munasinghe J, Stadler J, Sibilla C, Park SH, Blackstone C. Renvoisé B, et al. Hum Mol Genet. 2016 Dec 1;25(23):5111-5125. doi: 10.1093/hmg/ddw315. Hum Mol Genet. 2016. PMID: 27638887 Free PMC article.
Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are length-dependent disorders affecting long corticospinal axons, and the most common autosomal dominant forms are caused by mutations in genes that encode the spastin (SPG4), atlastin-1 (SPG3A) and REEP1 (SPG31) …
Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are length-dependent disorders affecting long corticospinal axons, and the most c …
11 results