Recombinant Human Sacsin (SACS), partial

1. 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. PMID: 30460542
2. we present the first Polish family with a comprehensive clinical and neuropsychological assessment, harboring two novel mutations in the SACS gene PMID: 28843771
3. 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.. PMID: 27133561
4. This study provides a potential genetic diagnosis for the patient and expands the spectrum of SACS mutations. PMID: 28658676
5. 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 PMID: 27601211
6. 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. PMID: 26366743
7. Various SACS mutations have functional consequences on the mitochondrial compartment in ARSACS patients. PMID: 26288984
8. 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 PMID: 23800155
9. 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 PMID: 24164681
10. Whole-exome sequencing identified a hemizygous novel spastic ataxia of Charlevoix-Saguenay (SACS) stop-codon mutation in 2 brothers PMID: 24180463
11. Abnormal retinal thickening is a common feature in patients with SACS mutation phenotype. PMID: 24457356
12. 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. PMID: 23598833
13. A novel missense mutation in sacsin, p.Arg272His, was identified in a patient with sacsin-related spastic ataxia. PMID: 23338241
14. the relative position of mutations in subrepeats will variably influence sacsin dysfunction PMID: 23280630
15. We identified a new mutation in the SACS gene in Autosomal recessive cerebellar ataxia PMID: 23043354
16. This study demonistrated that 16 novel SACS gene mutations in recessive spastic ataxia of Charlevoix-Saguenay showed Supratentorial and pontine abnormalitie. PMID: 22816526
17. Compares the GHKL-type-ATPase domain of this human protein to that of related plant, protozoan, yeast and bacterial proteins. PMID: 19880797
18. Novel compound heterozygous frameshift mutations were detected in the SACS gene in two siblings with a sensorimotor neuropathy, ataxia, and spasticity PMID: 22751902
19. As more SACS mutations are identified worldwide, the clinical spectrum of 'sacsinopathies' will expand PMID: 17853117
20. we describe two unrelated Autosomal recessive spastic ataxia of Charlevoix Saguenay patients from central Italy carrying two novel mutations in SACS PMID: 22805644
21. This study demonistrated that Autosomal recessive spastic ataxia of Charlevoix-Saguenay with compound heterozygotes for nonsense mutations of the SACS gene. PMID: 21745802
22. novel insights into the oligomerization state of sacsin and functions that are lost in mutations that cause ARSACS. PMID: 21507954
23. Data show that uniparental isodisomy of the paternal chromosome 13 carrying the mutated SACS gene played an etiologic role in a case of the disease. PMID: 20852969
24. This study, author enlargeg the ARSACS phenotype and the underlying genetic spectrum of SACS mutations. Patients with ARSACS are more common than previously known and risk underdiagnosis due to late onset age and unusual presentation. PMID: 20876471
25. These data indicate that sacsin repeating regions necessitate nucleotide hydrolysis for their function, provided by the common Hsp90 ATPase domain, which may give rise to a novel activity related to protein quality control. PMID: 20488193
26. Our results expand the genotype phenotype correlation of mutations in the sacsin gene in ataxia patients PMID: 19892370
27. Report of a reliable and inexpensive method to detect more than 95% of the ARSACS disease alleles. PMID: 11788093
28. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS PMID: 14718706
29. The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation. PMID: 14718707
30. A homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R) was identified in two sibling Japanese early onset spastic ataxia patients PMID: 14718708
31. analysis of SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay families PMID: 15156359
32. The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene. PMID: 15985586
33. The authors report here identical twin sisters with novel compound heterozygous mutations (c.[2951_2952delAG]+[3922delT]) in the SACS gene. PMID: 16198375
34. Japanese autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patient with a compound heterozygous mutation in a new exon of the SACS gene. PMID: 16606928
35. report of Japanese siblings with a new missense mutation (C922T, L308F) in exon 7 of SACS PMID: 17290461
36. We describe four patients in a Belgian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A novel homozygous missense mutation of the SACS gene was identified in the present family. PMID: 17716690
37. Both point mutation and deletion associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PMID: 18398442
38. In a Dutch cohort of 43 index patients with ataxia onset before age 25, we identified 16 index patients (total 23 patients) with mutations in the SACS gene. Nine of them had homozygous mutations, and seven of them had compound heterozygous mutations. PMID: 18465152
39. The authors report a clinical and genetic analysis of a Japanese family with ARSACS with novel compound heterozygous mutations in the SACS gene (N161fsX175, L802P). The phenotype is similar to that of previously reported ARSACS patients. PMID: 18484239
40. Results report the identification of an unconventional SACS mutation, a large-scale deletion sized approximately 1.5 Mb encompassing the whole gene, in two unrelated patients. PMID: 19031088

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HGNC: 10519

OMIM: 270550

KEGG: hsa:26278

STRING: 9606.ENSP00000371729

UniGene: Hs.159492