| The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. | The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D., Free PMC Article | 05/5/2023 |
| Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families. | Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.
Pashaei M, Davarzani A, Hajati R, Zamani B, Nafissi S, Larti F, Nilipour Y, Rohani M, Alavi A. | 01/15/2022 |
| Investigating ZFYVE26 mutations in a Taiwanese cohort with hereditary spastic paraplegia. | Investigating ZFYVE26 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Hsu SL, Lu YJ, Tsai YS, Chao HC, Fuh JL, Liao YC, Lee YC. | 12/25/2021 |
| Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia. | Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.
Bibi F, Efthymiou S, Bourinaris T, Tariq A, Zafar F, Rana N, Salpietro V, Houlden H, Raja GK, SYNaPS Study Group, Saeed S, Minhas NM. | 06/19/2021 |
| ZFYVE26 and SPG11 are differently involved in autophagy and endocytosis. | ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.
Vantaggiato C, Panzeri E, Castelli M, Citterio A, Arnoldi A, Santorelli FM, Liguori R, Scarlato M, Musumeci O, Toscano A, Clementi E, Bassi MT., Free PMC Article | 03/14/2020 |
| Here, we have generated induced pluripotent stem cells (iPSCs) from patients with two autosomal recessive forms of hereditary spastic paraplegia (HSP) , SPG15 and SPG48, which are caused by mutations in the ZFYVE26 and AP5Z1 genes encoding proteins in the same complex, the spastizin and AP5Z1 proteins, respectively. | Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias.
Denton K, Mou Y, Xu CC, Shah D, Chang J, Blackstone C, Li XJ., Free PMC Article | 03/16/2019 |
| Our protocol showed high specificity and sensitivity for homozygosity detection and facilitated the identification of novel mutations in GAN, GBA2, and ZFYVE26 in four families affected by hereditary spastic paraplegia or Charcot-Marie-Tooth disease | Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
Kancheva D, Atkinson D, De Rijk P, Zimon M, Chamova T, Mitev V, Yaramis A, Maria Fabrizi G, Topaloglu H, Tournev I, Parman Y, Parma Y, Battaloglu E, Estrada-Cuzcano A, Jordanova A. | 12/16/2017 |
| spastizin and spatacsin were essential components for the initiation of lysosomal tubulation. Together, these results link dysfunction of the autophagy/lysosomal biogenesis machinery to neurodegeneration. | Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.
Chang J, Lee S, Blackstone C., Free PMC Article | 07/25/2015 |
| ZFYVE26 is a key determinant of autophagosome maturation | ZFYVE26/SPASTIZIN: a close link between complicated hereditary spastic paraparesis and autophagy.
Vantaggiato C, Clementi E, Bassi MT., Free PMC Article | 11/22/2014 |
| spg15 should be search for in the case of juvenile levodopa reponsive parkinsonism | SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.
Mallaret M, Lagha-Boukbiza O, Biskup S, Namer IJ, Rudolf G, Anheim M, Tranchant C. | 10/4/2014 |
| We propose AP-5, SPG15, SPG11 form a coat-like complex, with AP-5 involved in protein sorting, SPG15 facilitating docking of the coat onto membranes by interacting with PI3P via its FYVE domain, and SPG11 (possibly together with SPG15) forming a scaffold. | Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.
Hirst J, Borner GH, Edgar J, Hein MY, Mann M, Buchholz F, Antrobus R, Robinson MS., Free PMC Article | 04/5/2014 |
| spastizin interacts with the autophagy related Beclin 1-UVRAG-Rubicon multiprotein complex and is required for autophagosome maturation. | Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15.
Vantaggiato C, Crimella C, Airoldi G, Polishchuk R, Bonato S, Brighina E, Scarlato M, Musumeci O, Toscano A, Martinuzzi A, Santorelli FM, Ballabio A, Bresolin N, Clementi E, Bassi MT., Free PMC Article | 11/30/2013 |
| SPG15 was strongly expressed in cortical and spinal motor neurons and in embryos. It partially co-localized with multiple organelles, particularly with protein-trafficking vesicles, endoplasmic reticulum, microtubules and the mitochondria surface. | Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.
Murmu RP, Martin E, Rastetter A, Esteves T, Muriel MP, El Hachimi KH, Denora PS, Dauphin A, Fernandez JC, Duyckaerts C, Brice A, Darios F, Stevanin G. | 10/8/2011 |
| Findings suggest a positive feedback loop for recruitment of FYVE-CENT and Beclin 1 to the intercellular bridge during cytokinesis, and reveal a novel potential tumor suppressor mechanism for Beclin 1. | A tumor-associated mutation of FYVE-CENT prevents its interaction with Beclin 1 and interferes with cytokinesis.
Sagona AP, Nezis IP, Bache KG, Haglund K, Bakken AC, Skotheim RI, Stenmark H., Free PMC Article | 07/30/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| PtdIns(3)P production is essential for proper cytokinesis. PtdIns(3)P-binding centrosomal protein FYVE-CENT and TTC19 control cytokinesis through their translocation from the centrosome to the midbody mediated by the kinesin protein KIF13A. | PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody.
Sagona AP, Nezis IP, Pedersen NM, Liestøl K, Poulton J, Rusten TE, Skotheim RI, Raiborg C, Stenmark H. | 05/3/2010 |
| phenotype and mutation frequency compared with SPG11 in complicated hereditary spastic paraplegia | Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.
Schüle R, Schlipf N, Synofzik M, Klebe S, Klimpe S, Hehr U, Winner B, Lindig T, Dotzer A, Riess O, Winkler J, Schöls L, Bauer P. | 01/21/2010 |
| Of patients with hereditary spastic paraplegia-thin corpus callosum, the largest analyzed so far, SPG15 was the second most frequent form (11.5%) after SPG11. | SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, Martin-Hardy P, Sibon I, Sole G, Orignac I, Mhiri C, Coutinho P, Durr A, Brice A, Stevanin G. | 01/21/2010 |
| Autosomal recessive HSP-TCC is a frequent subtype of complicated HSP in Tunisia and is clinically and genetically heterogeneous. SPG11 and SPG15 are the major loci for this entity. | Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.
Boukhris A, Stevanin G, Feki I, Denis E, Elleuch N, Miladi MI, Truchetto J, Denora P, Belal S, Mhiri C, Brice A. | 01/21/2010 |
| Refinement of SPG15 to a 2.64 Mb genetic interval on chromosome 14q23.3-q24.2 and the identification of ZFYVE26 was reported in families with complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. | Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G., Free PMC Article | 01/21/2010 |
| phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with hereditary spastic paraplegia and significantly reduces the SPG15 locus | Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.
Elleuch N, Bouslam N, Hanein S, Lossos A, Hamri A, Klebe S, Meiner V, Birouk N, Lerer I, Grid D, Bacq D, Tazir M, Zelenika D, Argov Z, Durr A, Yahyaoui M, Benomar A, Brice A, Stevanin G. | 01/21/2010 |