1 |
de Koning TJ. Amino acid synthesis deficiencies. J Inherit Metab Dis 2017;40:609-620.
DOI
|
2 |
Koh K, Ishiura H, Beppu M, Shimazaki H, Ichinose Y, Mitsui J, et al. Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. J Hum Genet 2018;63:1009-1013.
DOI
|
3 |
Stelzer G, Rosen N, Plaschkes I, Zimmerman S, Twik M, Fishilevich S, et al. The GeneCards Suite: from gene data mining to disease genome sequence analyses. Curr Protoc Bioinformatics 2016;54:1.30.1-1.30.33.
|
4 |
Magini P, Marco-Marin C, Escamilla-Honrubia JM, Martinelli D, Dionisi-Vici C, Faravelli F, et al. P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9. Ann Clin Transl Neurol 2019;6:1533-1540.
DOI
|
5 |
Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, et al. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain 2015;138:2191-2205.
DOI
|
6 |
Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007;39:366-372.
DOI
|
7 |
Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Aguilera MA, Meyer R, et al. VarSome: the human genomic variant search engine. Bioinformatics 2019;35:1978-1980.
DOI
|
8 |
Boutry M, Pierga A, Matusiak R, Branchu J, Houllegatte M, Ibrahim Y, et al. Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis. Commun Biol 2019;2:380.
DOI
|
9 |
Slavotinek AM, Pike M, Mills K, Hurst JA. Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? Am J Med Genet 1996;62:42-47.
DOI
|
10 |
Lallemant-Dudek P, Darios F, Durr A. Recent advances in understanding hereditary spastic paraplegias and emerging therapies. Fac Rev 2021;10:27.
|
11 |
Ionita-Laza I, McCallum K, Xu B, Buxbaum JD. A spectral approach integrating functional genomic annotations for coding and noncoding variants. Nat Genet 2016;48:214-220.
DOI
|
12 |
Shihab HA, Rogers MF, Gough J, Mort M, Cooper DN, Day IN, et al. An integrative approach to predicting the functional effects of non-coding and coding sequence variation. Bioinformatics 2015;31:1536-1543.
DOI
|
13 |
Liu X, Li C, Mou C, Dong Y, Tu Y. dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. Genome Med 2020;12:103.
DOI
|
14 |
Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 2014;11:361-362.
DOI
|
15 |
Ewing B, Hillier L, Wendl MC, Green P. Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome Res 1998;8:175-185.
DOI
|
16 |
Fortelny N, Pavlidis P, Overall CM. The path of no return: truncated protein N-termini and current ignorance of their genesis. Proteomics 2015;15:2547-2552.
DOI
|
17 |
Waterhouse A, Bertoni M, Bienert S, Studer G, Tauriello G, Gumienny R, et al. SWISS-MODEL: homology modelling of protein structures and complexes. Nucleic Acids Res 2018;46:W296-W303.
DOI
|
18 |
Koh K, Takaki R, Ishiura H, Tsuji S, Takiyama Y. SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. BMC Neurol 2021;21:64.
DOI
|
19 |
Steenhof M, Kibaek M, Larsen MJ, Christensen M, Lund AM, Brusgaard K, et al. Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia. Neurogenetics 2018;19:145-149.
DOI
|
20 |
Wei Q, Dong HL, Pan LY, Chen CX, Yan YT, Wang RM, et al. Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia. Transl Neurodegener 2019;8:19.
DOI
|
21 |
Tian Y, Pesaran T, Chamberlin A, Fenwick RB, Li S, Gau CL, et al. REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification. Sci Rep 2019;9:12752.
DOI
|
22 |
Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, et al. Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Delta(1)-pyrroline-5-carboxylate synthase (P5CS). Am J Med Genet A 2011;155A:1848-1856.
|
23 |
Seri M, Cusano R, Forabosco P, Cinti R, Caroli F, Picco P, et al. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet 1999;64:586-593.
DOI
|
24 |
Quang D, Chen Y, Xie X. DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics 2015;31:761-763.
DOI
|
25 |
Ewing B, Green P. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res 1998;8:186-194.
DOI
|
26 |
Yang J, Yan R, Roy A, Xu D, Poisson J, Zhang Y. The I-TASSER Suite: protein structure and function prediction. Nat Methods 2015;12:7-8.
|
27 |
Bellofatto M, De Michele G, Iovino A, Filla A, Santorelli FM. Management of hereditary spastic paraplegia: a systematic review of the literature. Front Neurol 2019;10:3.
DOI
|
28 |
Hauser S, Poenisch M, Schelling Y, Hoflinger P, Schuster S, Teegler A, et al. mRNA as a novel treatment strategy for hereditary spastic paraplegia type 5. Mol Ther Methods Clin Dev 2019;15: 359-370.
DOI
|