REFERENCES

1. Ding R, Goh W, Wu R, et al. Revisit gut microbiota and its impact on human health and disease. J Food Drug Anal. 2019;27:623-31.

2. Lozupone CA, Stombaugh JI, Gordon JI, Jansson JK, Knight R. Diversity, stability and resilience of the human gut microbiota. Nature. 2012;489:220-30.

3. Thursby E, Juge N. Introduction to the human gut microbiota. Biochem J. 2017;474:1823-36.

4. Shreiner AB, Kao JY, Young VB. The gut microbiome in health and in disease. Curr Opin Gastroenterol. 2015;31:69-75.

5. Rooks MG, Garrett WS. Gut microbiota, metabolites and host immunity. Nat Rev Immunol. 2016;16:341-52.

6. Belkaid Y, Hand TW. Role of the microbiota in immunity and inflammation. Cell. 2014;157:121-41.

7. Sharon G, Sampson TR, Geschwind DH, Mazmanian SK. The central nervous system and the gut microbiome. Cell. 2016;167:915-32.

8. Takagi T, Naito Y, Inoue R, et al. Differences in gut microbiota associated with age, sex, and stool consistency in healthy Japanese subjects. J Gastroenterol. 2018;54:53-63.

9. Clemente JC, Manasson J, Scher JU. The role of the gut microbiome in systemic inflammatory disease. BMJ. 2018;360:j5145.

10. Dandamudi BJ, Dimaano KAM, Shah N, et al. Neurodegenerative disorders and the gut-microbiome-brain axis: a literature review. Cureus. 2024;16:e72427.

11. Fan Y, Pedersen O. Gut microbiota in human metabolic health and disease. Nat Rev Microbiol. 2020;19:55-71.

12. Cryan JF, O'riordan KJ, Cowan CSM, et al. The microbiota-gut-brain axis. Physiol Rev. 2019;99:1877-2013.

13. Gubert C, Kong G, Renoir T, Hannan AJ. Exercise, diet and stress as modulators of gut microbiota: implications for neurodegenerative diseases. Neurobiol Dis. 2020;134:104621.

14. Vos WM, Tilg H, Van Hul M, Cani PD. Gut microbiome and health: mechanistic insights. Gut. 2022;71:1020-32.

15. Wang P, Deng X, Zhang C, Yuan H. Gut microbiota and metabolic syndrome. Chin Med J. 2020;133:808-16.

16. Tripathi A, Debelius J, Brenner DA, et al. The gut-liver axis and the intersection with the microbiome. Nat Rev Gastroenterol Hepatol. 2018;15:397-411.

17. Fülling C, Dinan TG, Cryan JF. Gut microbe to brain signaling: what happens in vagus…. Neuron. 2019;101:998-1002.

18. Mayer EA, Knight R, Mazmanian SK, Cryan JF, Tillisch K. Gut microbes and the brain: paradigm shift in neuroscience. J Neurosci. 2014;34:15490-6.

19. Kulkarni S, Ganz J, Bayrer J, Becker L, Bogunovic M, Rao M. Advances in enteric neurobiology: the “brain” in the gut in health and disease. J Neurosci. 2018;38:9346-54.

20. Dekaboruah E, Suryavanshi MV, Chettri D, Verma AK. Human microbiome: an academic update on human body site specific surveillance and its possible role. Arch Microbiol. 2020;202:2147-67.

21. Nguyen Y, Stirnemann J, Belmatoug N. La maladie de Gaucher: quand y penser? Rev Med Interne. 2019;40:313-22.

22. Riboldi GM, Di Fonzo AB. GBA, Gaucher disease, and Parkinson’s disease: from genetic to clinic to new therapeutic approaches. Cells. 2019;8:364.

23. Pandey MK, Burrow TA, Rani R, et al. Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease. Nature. 2017;543:108-12.

24. Horowitz M, Braunstein H, Zimran A, Revel-Vilk S, Goker-Alpan O. Lysosomal functions and dysfunctions: molecular and cellular mechanisms underlying Gaucher disease and its association with Parkinson disease. Adv Drug Delivery Rev. 2022;187:114402.

25. Luettel DM, Terluk MR, Roh J, Weinreb NJ, Kartha RV. Emerging biomarkers in Gaucher disease. Adv Clin Chem. 2025;124:1-56.

26. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18:441.

27. Mohamed RNES, Elnahal WA, Furtado C, Zeitoun R, Abdel-Wahab N. Skeletal manifestations of Gaucher's disease: a case report and literature review. Semin Musculoskelet Radiol. 2024;28:505-10.

28. Méndez-cobián DA, Guzmán-Silahua S, García-Hernández D, et al. An overview of Gaucher disease. Diagnostics. 2024;14:2840.

29. Lal T, Sidransky E. The spectrum of neurological manifestations associated with Gaucher disease. Diseases. 2017;5:10.

30. Castillon G, Chang S, Moride Y. Global incidence and prevalence of Gaucher disease: a targeted literature review. JCM. 2022;12:85.

31. Roh J, Subramanian S, Weinreb NJ, Kartha RV. Gaucher disease - more than just a rare lipid storage disease. J Mol Med. 2022;100:499-518.

32. Lapaquette P, Bizeau J, Acar N, Bringer M. Reciprocal interactions between gut microbiota and autophagy. World J Gastroenterol. 2021;27:8283-301.

33. Chidambaram SB, Essa MM, Rathipriya A, et al. Gut dysbiosis, defective autophagy and altered immune responses in neurodegenerative diseases: tales of a vicious cycle. Pharmacol Ther. 2022;231:107988.

34. Murphy KE, Gysbers AM, Abbott SK, et al. Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease. Brain. 2014;137:834-48.

35. Ashique S, Mohanto S, Ahmed MG, et al. Gut-brain axis: a cutting-edge approach to target neurological disorders and potential synbiotic application. Heliyon. 2024;10:e34092.

36. Travagli RA, Browning KN, Camilleri M. Parkinson disease and the gut: new insights into pathogenesis and clinical relevance. Nat Rev Gastroenterol Hepatol. 2020;17:673-85.

37. Nagral A. Gaucher disease. J Clin Exp Hepatol. 2014;4:37-50.

38. Gilbert JA, Blaser MJ, Caporaso JG, Jansson JK, Lynch SV, Knight R. Current understanding of the human microbiome. Nat Med. 2018;24:392-400.

39. Ridaura VK, Faith JJ, Rey FE, et al. Gut microbiota from twins discordant for obesity modulate metabolism in mice. Science. 2013;341:1241214.

40. Rowland I, Gibson G, Heinken A, et al. Gut microbiota functions: metabolism of nutrients and other food components. Eur J Nutr. 2017;57:1-24.

41. O'callaghan A, Van Sinderen D. Bifidobacteria and their role as members of the human gut microbiota. Front Microbiol. 2016;7:925.

42. Reyes A, Blanton LV, Cao S, et al. Gut DNA viromes of Malawian twins discordant for severe acute malnutrition. Proc Natl Acad Sci USA. 2015;112:11941-6.

43. Shin N, Whon TW, Bae J. Proteobacteria: microbial signature of dysbiosis in gut microbiota. Trends Biotechnol. 2015;33:496-503.

44. David LA, Maurice CF, Carmody RN, et al. Diet rapidly and reproducibly alters the human gut microbiome. Nature. 2013;505:559-63.

45. Magne F, Gotteland M, Gauthier L, et al. The firmicutes/bacteroidetes ratio: a relevant marker of gut dysbiosis in obese patients? Nutrients. 2020;12:1474.

46. Finucane MM, Sharpton TJ, Laurent TJ, Pollard KS. A taxonomic signature of obesity in the microbiome? Getting to the guts of the matter. PLoS ONE. 2014;9:e84689.

47. Clemente JC, Ursell LK, Parfrey LW, Knight R. The impact of the gut microbiota on human health: an integrative view. Cell. 2012;148:1258-70.

48. Cryan JF, Dinan TG. Mind-altering microorganisms: the impact of the gut microbiota on brain and behaviour. Nat Rev Neurosci. 2012;13:701-12.

49. Lopez-Siles M, Enrich-Capó N, Aldeguer X, et al. Alterations in the abundance and co-occurrence of akkermansia muciniphila and faecalibacterium prausnitzii in the colonic mucosa of inflammatory bowel disease subjects. Front Cell Infect Microbiol. 2018;8:281.

50. Kendong SM, Raja Ali RA, Nawawi KNM, Ahmad HF, Mokhtar NM. Gut dysbiosis and intestinal barrier dysfunction: potential explanation for early-onset colorectal cancer. Front Cell Infect Microbiol. 2021;11:744606.

51. Wilson ID, Nicholson JK. Gut microbiome interactions with drug metabolism, efficacy, and toxicity. Transl Res. 2017;179:204-22.

52. Derrien M, Belzer C, De Vos WM. Akkermansia muciniphila and its role in regulating host functions. Microb Pathog. 2017;106:171-81.

53. Manrique P, Dills M, Young M. The human gut phage community and its implications for health and disease. Viruses. 2017;9:141.

54. Underhill DM, Iliev ID. The mycobiota: interactions between commensal fungi and the host immune system. Nat Rev Immunol. 2014;14:405-16.

55. Slavin J. Fiber and prebiotics: mechanisms and health benefits. Nutrients. 2013;5:1417-35.

56. Karimi M, Shirsalimi N, Hashempour Z, et al. Safety and efficacy of fecal microbiota transplantation (FMT) as a modern adjuvant therapy in various diseases and disorders: a comprehensive literature review. Front Immunol. 2024;15:1439176.

57. Aguilera-Correa J, Madrazo-Clemente P, Martínez-Cuesta MDC, et al. Lyso-Gb3 modulates the gut microbiota and decreases butyrate production. Sci Rep. 2019;9:12010.

58. Linari S. Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab. 2015;12:157-64.

59. Kinghorn K, Asghari A, Castillo-Quan J. The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease. Neural Regen Res. 2017;12:380.

60. Sampson TR, Debelius JW, Thron T, et al. Gut microbiota regulate motor deficits and neuroinflammation in a model of Parkinson’s disease. Cell. 2016;167:1469-80.e12.

61. Gragnaniello V, Cazzorla C, Gueraldi D, Puma A, Loro C, Burlina AB. The hidden burden: gastrointestinal involvement in lysosomal storage disorders. Metabolites. 2025;15:361.

62. Sønder SU, Limgala RP, Ivanova MM, et al. Persistent immune alterations and comorbidities in splenectomized patients with Gaucher disease. Blood Cells Mol Dis. 2016;59:8-15.

63. Candelli M, Franza L, Pignataro G, et al. Interaction between lipopolysaccharide and gut microbiota in inflammatory bowel diseases. Int J Mol Sci. 2021;22:6242.

64. Lavelle A, Sokol H. Gut microbiota-derived metabolites as key actors in inflammatory bowel disease. Nat Rev Gastroenterol Hepatol. 2020;17:223-37.

65. Taddei TH, Dziura J, Chen S, et al. High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. J Inherit Metab Dis. 2010;33:291-300.

66. Albillos A, De Gottardi A, Rescigno M. The gut-liver axis in liver disease: Pathophysiological basis for therapy. J Hepatol. 2020;72:558-77.

67. Larabi AB, Masson HLP, Bäumler AJ. Bile acids as modulators of gut microbiota composition and function. Gut Microbes. 2023;15:2172671.

68. Hu H, Shao W, Liu Q, et al. Gut microbiota promotes cholesterol gallstone formation by modulating bile acid composition and biliary cholesterol secretion. Nat Commun. 2022;13:252.

69. Xu S, Zhao M, Wang Q, et al. Effectiveness of probiotics and prebiotics against acute liver injury: a meta-analysis. Front Med. 2021;8:739337.

70. Nascimbeni F, Dalla Salda A, Carubbi F. Energy balance, glucose and lipid metabolism, cardiovascular risk and liver disease burden in adult patients with type 1 Gaucher disease. Blood Cells Mol Dis. 2018;68:74-80.

71. Kałużna M, Trzeciak I, Ziemnicka K, Machaczka M, Ruchała M. Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review. Orphanet J Rare Dis. 2019;14:275.

72. He J, Zhang P, Shen L, et al. Short-chain fatty acids and their association with signalling pathways in inflammation, glucose and lipid metabolism. Int J Mol Sci. 2020;21:6356.

73. Portincasa P, Bonfrate L, Vacca M, et al. Gut microbiota and short chain fatty acids: implications in glucose homeostasis. Int J Mol Sci. 2022;23:1105.

74. Rosenbloom BE, Cappellini MD, Weinreb NJ, et al. Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the international gaucher group gaucher registry. Am J Hematol. 2022;97:1337-47.

75. Udayar V, Chen Y, Sidransky E, Jagasia R. Lysosomal dysfunction in neurodegeneration: emerging concepts and methods. Trends Neurosci. 2022;45:184-99.

76. Park J, Kim CH. Regulation of common neurological disorders by gut microbial metabolites. Exp Mol Med. 2021;53:1821-33.

77. Hull A, Atilano ML, Gergi L, Kinghorn KJ. Lysosomal storage, impaired autophagy and innate immunity in Gaucher and Parkinson's diseases: insights for drug discovery. Phil Trans R Soc B. 2024;379:20220381.

78. Masi L, Brandi ML. Gaucher disease: the role of the specialist on metabolic bone diseases. Clin Cases Miner Bone Metab. 2015;12:165-9.

79. Qi P, Chen X, Liu H, Ma J, Qi Z, Xie X. Regulatory mechanisms of gut homeostasis and bone metabolism interplay in osteoporosis. Phenomics. 2025;5:435-45.

80. Tu Y, Yang R, Xu X, Zhou X. The microbiota-gut-bone axis and bone health. J Leukocyte Biol. 2021;110:525-37.

81. Marcucci G, Brandi ML. The Diagnosis and therapy of osteoporosis in Gaucher disease. Calcif Tissue Int. 2025;116:31.

82. Behera J, Ison J, Tyagi SC, Tyagi N. The role of gut microbiota in bone homeostasis. Bone. 2020;135:115317.

83. Schepper JD, Irwin R, Kang J, et al. Probiotics in gut-bone signaling. Adv Exp Med Biol. 2017;1033:225-47.

84. Nguyen TLA, Vieira-silva S, Liston A, Raes J. How informative is the mouse for human gut microbiota research? Dis Model Mech. 2015;8:1-16.

85. Atilano ML, Hull A, Romila C, et al. Autophagic dysfunction and gut microbiota dysbiosis cause chronic immune activation in a Drosophila model of Gaucher disease. PLoS Genet. 2023;19:e1011063.

86. Kuppuramalingam A, Cabasso O, Horowitz M. Functional analysis of human GBA1 missense mutations in drosophila: insights into Gaucher disease pathogenesis and phenotypic consequences. Cells. 2024;13:1619.

87. Chaklai A, O’neil A, Goel S, et al. Effects of paraquat, dextran sulfate sodium, and irradiation on behavioral and cognitive performance and the gut microbiome in A53T and A53T-L444P mice. Genes. 2024;15:282.

88. Menozzi E, Geiger M, Meslier V, et al. Exploring the relationship between GBA1 host genotype and gut microbiome in the GBA1L444P/WT mouse model: implications for Parkinson’s disease pathogenesis. Front Neurosci. 2025;19:1546203.

89. Noble EE, Hsu TM, Kanoski SE. Gut to brain dysbiosis: mechanisms linking western diet consumption, the microbiome, and cognitive impairment. Front Behav Neurosci. 2017;11:9.

90. Du Y, He C, An Y, et al. The role of short chain fatty acids in inflammation and body health. Int J Mol Sci. 2024;25:7379.

91. Lazar V, Ditu L, Pircalabioru GG, et al. Aspects of gut microbiota and immune system interactions in infectious diseases, immunopathology, and cancer. Front Immunol. 2018;9:1830.

92. Jones J, Reinke SN, Ali A, Palmer DJ, Christophersen CT. Fecal sample collection methods and time of day impact microbiome composition and short chain fatty acid concentrations. Sci Rep. 2021;11:13964.

93. Allaband C, Mcdonald D, Vázquez-baeza Y, et al. Microbiome 101: studying, analyzing, and interpreting gut microbiome data for clinicians. Clin Gastroenterol Hepatol. 2019;17:218-30.

94. Vandeputte D, Tito RY, Vanleeuwen R, Falony G, Raes J. Practical considerations for large-scale gut microbiome studies. FEMS Microbiol Rev. 2017;41:S154-67.

95. Tang Q, Jin G, Wang G, et al. Current sampling methods for gut microbiota: a call for more precise devices. Front Cell Infect Microbiol. 2020;10:151.

96. Crucillà S, Caldart F, Michelon M, Marasco G, Costantino A. Functional abdominal bloating and gut microbiota: an update. Microorganisms. 2024;12:1669.

97. Giuffrida G, Markovic U, Condorelli A, et al. Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review. Orphanet J Rare Dis. 2023;18:27.

98. Meyers G, Samouda H, Bohn T. Short chain fatty acid metabolism in relation to gut microbiota and genetic variability. Nutrients. 2022;14:5361.

99. Dumitrescu L, Marta D, Dănău A, et al. Serum and fecal markers of intestinal inflammation and intestinal barrier permeability are elevated in Parkinson’S disease. Front Neurosci. 2021;15:689723.

100. Martín R, Rios-covian D, Huillet E, et al. Faecalibacterium: a bacterial genus with promising human health applications. FEMS Microbiol Rev. 2023;47:fuad039.

101. Kim Y, Mills DA. Exploring the gut microbiome: probiotics, prebiotics, synbiotics, and postbiotics as key players in human health and disease improvement. Food Sci Biotechnol. 2024;33:2065-80.

102. Sorbara MT, Pamer EG. Microbiome-based therapeutics. Nat Rev Microbiol. 2022;20:365-80.

103. You S, Ma Y, Yan B, et al. The promotion mechanism of prebiotics for probiotics: a review. Front Nutr. 2022;9:1000517.

104. Oliver A, Chase AB, Weihe C, et al. High-fiber, whole-food dietary intervention alters the human gut microbiome but not fecal short-chain fatty acids. mSystems. 2021;6:00115-21.

105. Rinninella E, Cintoni M, Raoul P, et al. Food components and dietary habits: keys for a healthy gut microbiota composition. Nutrients. 2019;11:2393.

106. Li H, Zhou D, Gan R, et al. Effects and mechanisms of probiotics, prebiotics, synbiotics, and postbiotics on metabolic diseases targeting gut microbiota: a narrative review. Nutrients. 2021;13:3211.

107. Abe M, Abe H. Lifestyle medicine - an evidence based approach to nutrition, sleep, physical activity, and stress management on health and chronic illness. Pers Med Univ. 2019;8:3-9.

108. Sobek KŁ, Mazur M, Waz D, et al. The impact of diet and lifestyle on the course of autoimmune diseases. Qual Sport. 2024;36:56879.

109. Yadav RK, Magan D, Mehta N, Sharma R, Mahapatra SC. Efficacy of a short-term yoga-based lifestyle intervention in reducing stress and inflammation: preliminary results. J Altern Complement Med. 2012;18:662-7.

110. Călinoiu LF, Vodnar DC. Whole grains and phenolic acids: a review on bioactivity, functionality, health benefits and bioavailability. Nutrients. 2018;10:1615.

111. Roy S, Nag S, Saini A, Choudhury L. Association of human gut microbiota with rare diseases: a close peep through. Intractable Rare Dis Res. 2022;11:52-62.

112. Xiao Y, Gong Y, Qi Y, Shao Z, Jiang Y. Effects of dietary intervention on human diseases: molecular mechanisms and therapeutic potential. Sig Transduct Target Ther. 2024;9:59.

113. Grabowski GA, Antommaria AH, Kolodny EH, Mistry PK. Gaucher disease: basic and translational science needs for more complete therapy and management. Mol Genet Metab. 2021;132:59-75.

114. Gary SE, Ryan E, Steward AM, Sidransky E. Recent advances in the diagnosis and management of Gaucher disease. Expert Rev Endocrinol Metab. 2018;13:107-18.

115. Strasser B, Wolters M, Weyh C, Krüger K, Ticinesi A. The effects of lifestyle and diet on gut microbiota composition, inflammation and muscle performance in our aging society. Nutrients. 2021;13:2045.

116. Kashyap PC, Chia N, Nelson H, Segal E, Elinav E. Microbiome at the frontier of personalized medicine. Mayo Clin Proc. 2017;92:1855-64.

117. Behrouzi A, Nafari AH, Siadat SD. The significance of microbiome in personalized medicine. Clin Transl Med. 2019;8:e16.

118. Walter J, Armet AM, Finlay BB, Shanahan F. Establishing or exaggerating causality for the gut microbiome: lessons from human microbiota-associated rodents. Cell. 2020;180:221-32.

119. Knight R, Vrbanac A, Taylor BC, et al. Best practices for analysing microbiomes. Nat Rev Microbiol. 2018;16:410-22.

120. Walter J, Maldonado-Gómez MX, Martínez I. To engraft or not to engraft: an ecological framework for gut microbiome modulation with live microbes. Curr Opin Biotechnol. 2018;49:129-39.

121. Gilbert JA, Lynch SV. Community ecology as a framework for human microbiome research. Nat Med. 2019;25:884-9.

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