Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A (2017) A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci 18:441
Article PubMed Central PubMed Google Scholar
Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E (2017) Gaucher disease: progress and ongoing challenges. Mol Genet Metab 120:8–21. https://doi.org/10.1016/j.ymgme.2016.11.006
Article CAS PubMed Google Scholar
Revel-Vilk S, Fuller M, Zimran A (2020) Value of glucosylsphingosine (Lyso-Gb1) as a biomarker in Gaucher disease: a systematic literature review. Int J Mol Sci 21(19):7159. https://doi.org/10.3390/ijms21197159
Article CAS PubMed Central PubMed Google Scholar
Sidransky E (2012) Gaucher disease: insights from a rare Mendelian disorder. Discov Med 14:273–281
PubMed Central PubMed Google Scholar
Neudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, Aghai E, Reches A, Bembi B, Zimran A (1996) Occurrence of Parkinson’s syndrome in type I Gaucher disease. QJM 89:691–694. https://doi.org/10.1093/qjmed/89.9.691
Article CAS PubMed Google Scholar
Tayebi N, Callahan M, Madike V, Stubblefield BK, Orvisky E, Krasnewich D, Fillano JJ, Sidransky E (2001) Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab 73:313–321. https://doi.org/10.1006/mgme.2001.3201
Article CAS PubMed Google Scholar
Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E (2003) Gaucher disease with Parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 79:104–109. https://doi.org/10.1016/s1096-7192(03)00071-4
Article CAS PubMed Google Scholar
Nair S, Bar N, Xu ML, Dhodapkar M, Mistry PK (2020) Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy. Mol Genet Metab 129:286–291. https://doi.org/10.1016/j.ymgme.2020.01.009
Article CAS PubMed Central PubMed Google Scholar
Nair S, Branagan AR, Liu J, Boddupalli CS, Mistry PK, Dhodapkar MV (2016) Clonal immunoglobulin against lysolipids in the origin of myeloma. N Engl J Med 374:555–561. https://doi.org/10.1056/NEJMoa1508808
Article CAS PubMed Central PubMed Google Scholar
Nair S, Sng J, Boddupalli CS, Seckinger A, Chesi M, Fulciniti M, Zhang L, Rauniyar N, Lopez M, Neparidze N et al (2018) Antigen-mediated regulation in monoclonal gammopathies and myeloma. JCI Insight 3:e98259. https://doi.org/10.1172/jci.insight.98259
Article PubMed Central PubMed Google Scholar
Cabukusta B, Neefjes J (2018) Mechanisms of lysosomal positioning and movement. Traffic (Copenhagen, Denmark) 19:761–769. https://doi.org/10.1111/tra.12587
Article CAS PubMed Google Scholar
Pu J, Guardia CM, Keren-Kaplan T, Bonifacino JS (2016) Mechanisms and functions of lysosome positioning. J Cell Sci 129:4329–4339. https://doi.org/10.1242/jcs.196287
Article CAS PubMed Central PubMed Google Scholar
Stirnemann J, Vigan M, Hamroun D, Heraoui D, Rossi-Semerano L, Berger MG, Rose C, Camou F, de Roux-Serratrice C, Grosbois B et al (2012) The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis 7:77. https://doi.org/10.1186/1750-1172-7-77
Article PubMed Central PubMed Google Scholar
Allen MJ, Myer BJ, Khokher AM, Rushton N, Cox TM (1997) Pro-inflammatory cytokines and the pathogenesis of Gaucher’s disease: increased release of interleukin-6 and interleukin-10. QJM 90:19–25. https://doi.org/10.1093/qjmed/90.1.19
Article CAS PubMed Google Scholar
Galper J, Balwani M, Fahn S, Waters C, Krohn L, Gan-Or Z, Dzamko N, Alcalay RN (2021) Cytokines and Gaucher biomarkers in glucocerebrosidase carriers with and without Parkinson disease. Mov Disord 36:1451–1455. https://doi.org/10.1002/mds.28525
Article CAS PubMed Central PubMed Google Scholar
Trevor H, Tibshirani R, Narasimhan B, Chu G (2022) Impute: impute: imputation for microarray data
Stacklies W, Redestig H, Scholz M, Walther D, Selbig J (2007) pcaMethods–a bioconductor package providing PCA methods for incomplete data. Bioinformatics 23:1164–1167. https://doi.org/10.1093/bioinformatics/btm069
Article CAS PubMed Google Scholar
Ritchie ME, Phipson B, Wu D, Hu Y, Law CW, Shi W, Smyth GK (2015) limma powers differential expression analyses for RNA-sequencing and microarray studies. Nucleic Acids Res 43:e47. https://doi.org/10.1093/nar/gkv007
Article CAS PubMed Central PubMed Google Scholar
Francelle L, Mazzulli JR (2022) Neuroinflammation in Gaucher disease, neuronal ceroid lipofuscinosis, and commonalities with Parkinson’s disease. Brain Res 1780:147798. https://doi.org/10.1016/j.brainres.2022.147798
Article CAS PubMed Central PubMed Google Scholar
Lopez de Frutos L, Almeida F, Murillo-Saich J, Conceicao VA, Guma M, Queheberger O, Giraldo P, Miltenberger-Miltenyi G (2022) Serum phospholipid profile changes in Gaucher disease and Parkinson’s disease. Int J Mol Sci 23(18):10387. https://doi.org/10.3390/ijms231810387
Article CAS PubMed Central PubMed Google Scholar
Wang B, Tontonoz P (2019) Phospholipid remodeling in physiology and disease. Annu Rev Physiol 81:165–188
Cole LK, Vance JE, Vance DE (2012) Phosphatidylcholine biosynthesis and lipoprotein metabolism. Biochim Biophys Acta 1821:754–761. https://doi.org/10.1016/j.bbalip.2011.09.009
Article CAS PubMed Google Scholar
Moessinger C, Klizaite K, Steinhagen A, Philippou-Massier J, Shevchenko A, Hoch M, Ejsing CS, Thiele C (2014) Two different pathways of phosphatidylcholine synthesis, the Kennedy pathway and the Lands cycle, differentially regulate cellular triacylglycerol storage. BMC Cell Biol 15:43. https://doi.org/10.1186/s12860-014-0043-3
Article CAS PubMed Central PubMed Google Scholar
Henneberry AL, Wright MM, McMaster CR (2002) The major sites of cellular phospholipid synthesis and molecular determinants of fatty acid and lipid head group specificity. Mol Biol Cell 13:3148–3161. https://doi.org/10.1091/mbc.01-11-0540
Article CAS PubMed Central PubMed Google Scholar
Petkevicius K, Virtue S, Bidault G, Jenkins B, Cubuk C, Morgantini C, Aouadi M, Dopazo J, Serlie MJ, Koulman A, Vidal-Puig A (2019) Accelerated phosphatidylcholine turnover in macrophages promotes adipose tissue inflammation in obesity. Elife 8:e47990. https://doi.org/10.7554/eLife.47990
Article CAS PubMed Central PubMed Google Scholar
Lee MW, Bakovic M, Vance DE (1996) Overexpression of phosphatidylethanolamine <i>N</i>-methyltransferase 2 in CHO-K1 cells does not attenuate the activity of the CDP-choline pathway for phosphatidylcholine biosynthesis. Biochem J 320:905–910. https://doi.org/10.1042/bj3200905
Article CAS PubMed Central PubMed Google Scholar
Vitner EB, Platt FM, Futerman AH (2010) Common and uncommon pathogenic cascades in lysosomal storage diseases. J Biol Chem 285:20423–20427. https://doi.org/10.1074/jbc.r110.134452
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