| Helical domain of hGBP3 cannot stimulate the second phosphate cleavage of GTP. | Helical domain of hGBP3 cannot stimulate the second phosphate cleavage of GTP.
Rashmi D, Gupta S, Kausar T, Sau AK., Free PMC Article | 04/10/2024 |
| A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance. | A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance.
Darouich S, Darouich S. | 02/16/2024 |
| Targeting of FSP1 regulates iron homeostasis in drug-tolerant persister head and neck cancer cells via lipid-metabolism-driven ferroptosis. | Targeting of FSP1 regulates iron homeostasis in drug-tolerant persister head and neck cancer cells via lipid-metabolism-driven ferroptosis.
Wu YC, Huang CS, Hsieh MS, Huang CM, Setiawan SA, Yeh CT, Kuo KT, Liu SC., Free PMC Article | 01/29/2024 |
| DNA methylation-regulated LINC02587 inhibits ferroptosis and promotes the progression of glioma cells through the CoQ-FSP1 pathway. | DNA methylation-regulated LINC02587 inhibits ferroptosis and promotes the progression of glioma cells through the CoQ-FSP1 pathway.
Wang Z, Cui Y, Wang F, Xu L, Yan Y, Tong X, Yan H., Free PMC Article | 10/30/2023 |
| FSP1 confers ferroptosis resistance in KEAP1 mutant non-small cell lung carcinoma in NRF2-dependent and -independent manner. | FSP1 confers ferroptosis resistance in KEAP1 mutant non-small cell lung carcinoma in NRF2-dependent and -independent manner.
Kim JW, Kim MJ, Han TH, Lee JY, Kim S, Kim H, Oh KJ, Kim WK, Han BS, Bae KH, Ban HS, Bae SH, Lee SC, Lee H, Lee EW., Free PMC Article | 08/30/2023 |
| Copy number variations in SPAST and ATL1 are rare among Brazilians. | Copy number variations in SPAST and ATL1 are rare among Brazilians.
Fussiger H, Pereira BLDS, Padilha JPD, Donis KC, Rare-Genomes Project Consortium, Siebert M, Brusius-Facchin AC, Baldo G, Saute JAM. | 04/6/2023 |
| Circ-ATL1 silencing reverses the activation effects of SIRT5 on smooth muscle cellular proliferation, migration and contractility in intracranial aneurysm by adsorbing miR-455. | Circ-ATL1 silencing reverses the activation effects of SIRT5 on smooth muscle cellular proliferation, migration and contractility in intracranial aneurysm by adsorbing miR-455.
Xu J, Fang C., Free PMC Article | 02/4/2023 |
| De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations. | De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.
Alecu JE, Saffari A, Jordan C, Srivastava S, Blackstone C, Ebrahimi-Fakhari D., Free PMC Article | 01/28/2023 |
| Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain (18)F-FDG PET. | Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain (18)F-FDG PET.
Hocquel A, Ravel JM, Lambert L, Bonnet C, Banneau G, Kol B, Tissier L, Hopes L, Meyer M, Dillier C, Michaud M, Lardin A, Kaminsky AL, Schmitt E, Liao L, Zhu F, Myriam B, Bossenmeyer-Pourié C, Verger A, Renaud M. | 11/19/2022 |
| A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching. | A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching.
Kelly CM, Zeiger PJ, Narayanan V, Ramsey K, Sondermann H., Free PMC Article | 05/14/2022 |
| INPP5K and Atlastin-1 maintain the nonuniform distribution of ER-plasma membrane contacts in neurons. | INPP5K and Atlastin-1 maintain the nonuniform distribution of ER-plasma membrane contacts in neurons.
Sun J, Harion R, Naito T, Saheki Y., Free PMC Article | 01/29/2022 |
| Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan. | Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.
Hsu SL, Hsueh HW, Chen SY, Chang YY, Tan S, Hong CT, Tsai YS, Yu KW, Wu HM, Liao YC, Soong BW, Hu CJ, Lan MY, Lee YC. | 01/29/2022 |
| Reconstitution of human atlastin fusion activity reveals autoinhibition by the C terminus. | Reconstitution of human atlastin fusion activity reveals autoinhibition by the C terminus.
Crosby D, Mikolaj MR, Nyenhuis SB, Bryce S, Hinshaw JE, Lee TH., Free PMC Article | 12/25/2021 |
| The hypervariable region of atlastin-1 is a site for intrinsic and extrinsic regulation. | The hypervariable region of atlastin-1 is a site for intrinsic and extrinsic regulation.
Kelly CM, Byrnes LJ, Neela N, Sondermann H, O'Donnell JP., Free PMC Article | 12/11/2021 |
| Atlastin-1 modulates seizure activity and neuronal excitability. | Atlastin-1 modulates seizure activity and neuronal excitability.
Lu X, Yang M, Yang Y, Wang XF., Free PMC Article | 07/3/2021 |
| Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia. | Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.
Kadnikova VA, Rudenskaya GE, Stepanova AA, Sermyagina IG, Ryzhkova OP., Free PMC Article | 11/21/2020 |
| The proposed mechanism ensures coordinated actions of ATL and Lnp in generating and maintaining three-way junctions. | Reciprocal regulation between lunapark and atlastin facilitates ER three-way junction formation.
Zhou X, He Y, Huang X, Guo Y, Li D, Hu J., Free PMC Article | 05/2/2020 |
| ATL deletion drastically reduces the number of junctions in the ER, very likely reducing membrane tension. Even when the network is transiently disrupted by the addition of purified cytATL1, a similar impact can be achieved. Interestingly, an ATL mutant, R77A, which is tethering competent but fusion deficient, is able to rescue lateral mobility defects and COPII formation. | Atlastin-mediated membrane tethering is critical for cargo mobility and exit from the endoplasmic reticulum.
Niu L, Ma T, Yang F, Yan B, Tang X, Yin H, Wu Q, Huang Y, Yao ZP, Wang J, Guo Y, Hu J., Free PMC Article | 04/4/2020 |
| that GTP binding induces an atlastin conformational change that favors crossover dimerization for fusion and that the input of energy from nucleotide hydrolysis promotes complex disassembly for subunit recycling. | GTP hydrolysis promotes disassembly of the atlastin crossover dimer during ER fusion.
Winsor J, Machi U, Han Q, Hackney DD, Lee TH., Free PMC Article | 09/28/2019 |
| This study was conducted to elucidate the genetic etiology of patients with the pure type autosomal dominant-hereditary spastic paraparesis diagnosis. The patient group consisted of 23 individuals from 6 families in Turkey. In ATL1, 6 patients have previously reported c.776C > A mutation and 6 patients have novel c.470 T > C mutation. | Three novel mutations in 20 patients with hereditary spastic paraparesis.
Duz MB, Dasdemir S, Kalayci Yigin A, Akalin MA, Seven M. | 04/6/2019 |
| These results suggest that SOCE plays an important role in neuronal regeneration, and mutations in ATL1 may cause HSP, partly by undermining SOCE. | Atlastin regulates store-operated calcium entry for nerve growth factor-induced neurite outgrowth.
Li J, Yan B, Si H, Peng X, Zhang SL, Hu J., Free PMC Article | 11/10/2018 |
| Variants in the ATL1 gene are a less frequent cause of hereditary spastic paraplegia among Czech patients than has been previously reported among other populations. | Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.
Mészárosová AU, Grečmalová D, Brázdilová M, Dvořáčková N, Kalina Z, Čermáková M, Vávrová D, Smetanová I, Staněk D, Seeman P. | 05/5/2018 |
| This study demonstrated that ATL1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients | Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
Elert-Dobkowska E, Stepniak I, Krysa W, Rajkiewicz M, Rakowicz M, Sobanska A, Rudzinska M, Wasielewska A, Pilch J, Kubalska J, Lipczynska-Lojkowska W, Kulczycki J, Kurdziel K, Sikorska A, Beetz C, Zaremba J, Sulek A. | 03/19/2018 |
| The results suggest that tethering and lipid mixing are catalyzed concurrently by atlastin GTPase hydrolysis but that the energy requirement for lipid mixing exceeds that for tethering, and the full energy released through crossover formation is necessary for fusion. | The crossover conformational shift of the GTPase atlastin provides the energy driving ER fusion.
Winsor J, Hackney DD, Lee TH., Free PMC Article | 10/7/2017 |
| that Atlastin 1 mutations may cause autosomal recessively inherited paraplegia with an underlying loss-of-function mechanism. Hence, patients with recessive forms of HSP should also be tested for the Atlastin 1 gene. | Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.
Willkomm L, Heredia R, Hoffmann K, Wang H, Voit T, Hoffman EP, Cirak S. | 04/8/2017 |