| The J Domain of Sacsin Disrupts Intermediate Filament Assembly. | The J Domain of Sacsin Disrupts Intermediate Filament Assembly.
Dabbaghizadeh A, Paré A, Cheng-Boivin Z, Dagher R, Minotti S, Dicaire MJ, Brais B, Young JC, Durham HD, Gentil BJ., Free PMC Article | 01/11/2023 |
| The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics. | The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics.
Francis V, Alshafie W, Kumar R, Girard M, Brais B, McPherson PS., Free PMC Article | 10/15/2022 |
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families. | Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.
Wang Z, Song Y, Wang X, Li X, Xu F, Si L, Dong Y, Yao T, Zhu J, Lai H, Li W, Lin F, Huang H, Wang C. | 11/27/2021 |
| Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth. | Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.
Huusko JM, Tiensuu H, Haapalainen AM, Pasanen A, Tissarinen P, Karjalainen MK, Zhang G, Christensen K, Ryckman KK, Jacobsson B, Murray JC, Kingsmore SF, Hallman M, Muglia LJ, Rämet M., Free PMC Article | 11/6/2021 |
| A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. | A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Samanci B, Gokalp EE, Bilgic B, Gurvit H, Artan S, Hanagasi HA. | 07/17/2021 |
| A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases. | A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.
Xiromerisiou G, Dadouli K, Marogianni C, Provatas A, Ntellas P, Rikos D, Stathis P, Georgouli D, Loules G, Zamanakou M, Hadjigeorgiou GM. | 10/10/2020 |
| Loss of SACSIN expression is associated with autosomal recessive spastic ataxia of the Charlevoix-Saguenay. | Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.
Gentil BJ, Lai GT, Menade M, Larivière R, Minotti S, Gehring K, Chapple JP, Brais B, Durham HD. | 10/5/2019 |
| novel pathogenic mutation of the SACS gene was discovered | [Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay].
Zhang Q, Li H, Chen C, Luan Z, Xu X, Tang S. | 08/31/2019 |
| The c.5236dupA (p.T1746fs) and c.13085T to G (p.I4362R) mutations of the SACS gene probably underlie spastic ataxia of Charlevoix-Saguenay | [Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].
Li S, Chen Y, Yuan X, Wei Q, Ou R, Gu X, Shang H. | 06/29/2019 |
| Novel homozygous variants in ATCAY, MCOLN1, and SACS in a complex movement disorder in five consanguineous Pakistani families. | Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders.
Manzoor H, Brüggemann N, Hussain HMJ, Bäumer T, Hinrichs F, Wajid M, Münchau A, Naz S, Lohmann K. | 06/22/2019 |
| The Sr1 structure reveals that ARSACS-causing missense mutations (R272H, R272C, and T201K) disrupt protein folding, most likely leading to sacsin degradation. This work lends structural support to the view of sacsin as a molecular chaperone and provides a framework for future studies of this protein. | Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations.
Ménade M, Kozlov G, Trempe JF, Pande H, Shenker S, Wickremasinghe S, Li X, Hojjat H, Dicaire MJ, Brais B, McPherson PS, Wong MJH, Young JC, Gehring K., Free PMC Article | 02/16/2019 |
| Our findings confirm the broad clinical spectrum associated with SACS mutations, including pure polyneuropathy without characteristic clinical and brain imaging manifestations of autosomal recessive spastic ataxia of Charlevoix-Saguenay. | SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Vill K, Müller-Felber W, Gläser D, Kuhn M, Teusch V, Schreiber H, Weis J, Klepper J, Schirmacher A, Blaschek A, Wiessner M, Strom TM, Dräger B, Hofmeister-Kiltz K, Tacke M, Gerstl L, Young P, Horvath R, Senderek J. | 12/22/2018 |
| we present the first Polish family with a comprehensive clinical and neuropsychological assessment, harboring two novel mutations in the SACS gene | Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.
Krygier M, Konkel A, Schinwelski M, Rydzanicz M, Walczak A, Sildatke-Bauer M, Płoski R, Sławek J. | 03/24/2018 |
| the twins described by Fitzsimmons had heterozygous mutations in the SACS gene, the gene responsible for autosomal recessive spastic ataxia of Charlevoix Saguenay as well as a heterozygous mutation in the TRPS1, the gene responsible in Trichorhinophalangeal syndrome type 1A TBL1XR1 mutation was identified in the patient described in 2009 as contributing to his cognitive impairment and autistic features.. | Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
Armour CM, Smith A, Hartley T, Chardon JW, Sawyer S, Schwartzentruber J, Hennekam R, Majewski J, Bulman DE, FORGE Canada Consortium, Suri M, Boycott KM. | 10/28/2017 |
| This study provides a potential genetic diagnosis for the patient and expands the spectrum of SACS mutations. | A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Zeng H, Tang JG, Yang YF, Tan ZP, Tan JQ. | 09/30/2017 |
| We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 in three families and TFG/SPG57, SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family | Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Elsayed LEO, Mohammed IN, Hamed AAA, Elseed MA, Johnson A, Mairey M, Mohamed HESA, Idris MN, Salih MAM, El-Sadig SM, Koko ME, Mohamed AYO, Raymond L, Coutelier M, Darios F, Siddig RA, Ahmed AKMA, Babai AMA, Malik HMO, Omer ZMBM, Mohamed EOE, Eltahir HB, Magboul NAA, Bushara EE, Elnour A, Rahim SMA, Alattaya A, Elbashir MI, Ibrahim ME, Durr A, Audhya A, Brice A, Ahmed AE, Stevanin G., Free PMC Article | 07/29/2017 |
| The results are consistent with the HEPN domain contributing to the functional activity of sacsin by binding to nucleotides or other multiply charged anionic compounds in neurons. | High-Throughput Screening for Ligands of the HEPN Domain of Sacsin.
Li X, Ménade M, Kozlov G, Hu Z, Dai Z, McPherson PS, Brais B, Gehring K., Free PMC Article | 06/28/2016 |
| Various SACS mutations have functional consequences on the mitochondrial compartment in ARSACS patients. | New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I. | 05/28/2016 |
| study reports an Italian family affected by an autosomal recessive form of hereditary spastic paraplegia (HSP) and peripheral neuropathy caused by a novel mutation in the SACS | A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
Gregianin E, Vazza G, Scaramel E, Boaretto F, Vettori A, Leonardi E, Tosatto SC, Manara R, Pegoraro E, Mostacciuolo ML. | 12/12/2015 |
| To clarify the segregation pattern of the mutations found in this family, having excluded somatic mosaicism for the specific mutations, we fully reanalyzed the SACS gene | Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.
Masciullo M, Silvestri G, Modoni A, Tessa A, Bianchi ML, Santorelli FM. | 05/30/2015 |
| Whole-exome sequencing identified a hemizygous novel spastic ataxia of Charlevoix-Saguenay (SACS) stop-codon mutation in 2 brothers | Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.
Pyle A, Griffin H, Duff J, Bennett S, Zwolinski S, Smertenko T, Yu-Wai Man P, Santibanez-Koref M, Horvath R, Chinnery PF., Free PMC Article | 08/9/2014 |
| Abnormal retinal thickening is a common feature in patients with SACS mutation phenotype. | Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes.
Yu-Wai-Man P, Pyle A, Griffin H, Santibanez-Korev M, Horvath R, Chinnery PF., Free PMC Article | 06/14/2014 |
| Widespread tissue damage may be associated with extensive loss of sacsin protein in the brain and may explain a wide range of progressive neurologic abnormalities in patients with spastic ataxia of Charlevoix-Saguenay. | Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Oguz KK, Haliloglu G, Temucin C, Gocmen R, Has AC, Doerschner K, Dolgun A, Alikasifoglu M., Free PMC Article | 05/31/2014 |
| A novel missense mutation in sacsin, p.Arg272His, was identified in a patient with sacsin-related spastic ataxia. | Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.
Dibilio V, Cavalcanti F, Nicoletti A, Mostile G, Bruno E, Annesi G, Tarantino P, Gagliardi M, Gambardella A, Quattrone A, Zappia M. | 03/8/2014 |
| the relative position of mutations in subrepeats will variably influence sacsin dysfunction | Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A, Tessa A, Barca A, Fattori F, de Leva MF, Terracciano A, Storelli C, Santorelli FM, Verri T., Free PMC Article | 08/31/2013 |