Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene

Elevated plasma chitotriosidase activity in various lysosomal storage disorders

Guo, Y.-F., He, W., Boer, A. M., Wevers, R., Bruijn, A., Groener, J., Hollak, C., Aerts, J. F. M. G., Galjaard, H., & Diggelen, O. (1995) · Journal of Inherited Metabolic Disease · doi:10.1007/bf02436762 · Cited by 188 · see citing works

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

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Sphingolipid Activator Protein D (sap-D) Stimulates the Lysosomal Degradation of Ceramide in Vivo

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Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs

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A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation

Hůlková, H. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.9.927 · Cited by 113 · see citing works

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

Vaccaro, A. M., Motta, M., Tatti, M., Scarpa, S., Masuelli, L., Bhat, M., Vanier, M. T., Tylki‐Szymańska, A., & Salvioli, R. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq204 · Cited by 105 · see citing works

Non‐neuronopathic Gaucher disease due to saposin C deficiency

Tylki-Szymańska, A., Czartoryska, B., Vanier, M., Poorthuis, B., Groener, J., Ługowska, A., Millat, G., Vaccaro, A. M., & Jurkiewicz, E. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00899.x · Cited by 98 · see citing works

Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse

Matsuda, J., Kido, M., Tadano‐Aritomi, K., Ishizuka, I., Tominaga, K., Toida, K., Takeda, E., Suzuki, K., & Kuroda, Y. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh281 · Cited by 94 · see citing works

Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency

Rafi, M. A., de Gala, G., Zhang, X.-L., & Wenger, D. A. (1993) · Somatic Cell and Molecular Genetics · doi:10.1007/bf01233949 · Cited by 86 · see citing works

Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses

Vitner, E. B., Dekel, H., Zigdon, H., Shachar, T., Farfel‐Becker, T., Eilam, R., Karlsson, S., & Futerman, A. H. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq273 · Cited by 83 · see citing works

Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts

Tatti, M., Motta, M., Bartolomeo, S. D., Scarpa, S., Cianfanelli, V., Cecconi, F., & Salvioli, R. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds367 · Cited by 80 · see citing works

A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate

van Diggelen, O. P., Voznyi, Y. V., Keulemans, J. L. M., Schoonderwoerd, K. C., Ledvinová, J., Mengel, E., Zschiesche, M., Santer, R. M., & HARZER, K. (2005) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-005-0105-y · Cited by 76 · see citing works

Cathepsin-mediated regulation of autophagy in saposin C deficiency

Tatti, M., Motta, M., Bartolomeo, S. D., Cianfanelli, V., & Salvioli, R. (2012) · Autophagy · doi:10.4161/auto.22557 · Cited by 58 · see citing works

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

Diaz-Font, A., Cormand, B., Santamaria, R., Vilageliu, L., Grinberg, D., & Chabás, A. (2005) · Human Genetics · doi:10.1007/s00439-005-1288-x · Cited by 48 · see citing works

Clinical, biochemical and molecular characterization of prosaposin deficiency

Motta, M., Tatti, M., Furlan, F., Celato, A., Fruscio, G. D., Polo, G., Manara, R., Nigro, V., Tartaglia, M., Burlina, A., et al. (2016) · Clinical Genetics · doi:10.1111/cge.12753 · Cited by 47 · see citing works

An improved fluorometric leukocyte β-glucosidase assay for Gaucher's disease

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Genetic fine localization of the β-glucocerebrosidase ( GBA ) and prosaposin ( PSAP ) genes: implications for Gaucher disease

Cormand, B., Montfort, M., Amparo Chabás, B., Vilageliu, L., & Grinberg, D. (1997) · Human Genetics · doi:10.1007/s004390050468 · Cited by 40 · see citing works

Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and α-hydroxy ceramide accumulation, and altered prosaposin trafficking

Sun, Y., Witte, D. P., Zamzow, M., Ran, H., Quinn, B., Matsuda, J., & Grabowski, G. A. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm040 · Cited by 40 · see citing works

A lysosome‐plasma membrane‐sphingolipid axis linking lysosomal storage to cell growth arrest

Samarani, M., Loberto, N., Soldà, G., Straniero, L., Asselta, R., Duga, S., Lunghi, G., Zucca, F. A., Mauri, L., Ciampa, M. G., et al. (2018) · The FASEB Journal · doi:10.1096/fj.201701512rr · Cited by 38 · see citing works

Specific saposin C deficiency: CNS impairment and acid -glucosidase effects in the mouse

Sun, Y., Ran, H., Zamzow, M., Kitatani, K., Skelton, M. R., Williams, M. T., Vorhees, C. V., Witte, D. P., Hannun, Y. A., & Grabowski, G. A. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp531 · Cited by 36 · see citing works

Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins

Motta, M., Camerini, S., Tatti, M., Casella, M., Torreri, P., Crescenzi, M., Tartaglia, M., & Salvioli, R. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu299 · Cited by 36 · see citing works

A rare form of Gaucher disease resulting from saposin C deficiency

Kang, L., Zhan, X., Ye, J., Han, L., Qiu, W., Gu, X., & Zhang, H. (2017) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2017.04.001 · Cited by 34 · see citing works

Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III

Razek, A. A. K. A., Abdalla, A. F., Fathy, A., & Megahed, A. (2012) · Skeletal Radiology · doi:10.1007/s00256-012-1464-8 · Cited by 33 · see citing works

Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher’s disease

Razek, A. A. K. A., Abdalla, A. F., Gaber, N. A., Fathy, A., Megahed, A., Barakat, T. E., & Alsayed, M. A. L. (2013) · European Radiology · doi:10.1007/s00330-013-2924-9 · Cited by 32 · see citing works

Apparent diffusion coefficient vale of the brain in patients with Gaucher’s disease type II and type III

Razek, A. A. K. A., El-Gaber, N. A., Abdalla, A. F., Fathy, A., Azab, A., & Rahman, A. A. (2009) · Neuroradiology · doi:10.1007/s00234-009-0548-1 · Cited by 31 · see citing works

Assessment of the liver and spleen in children with Gaucher disease type I with diffusion-weighted MR imaging

Razek, A. A. K. A., Abdalla, A. F., Barakat, T., Eltaher, H., & Ali, K. M. (2016) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2016.12.004 · Cited by 26 · see citing works

Multi-parametric MR imaging using apparent diffusion coefficient and fat fraction in quantification of bone marrow in pediatrics with Gaucher disease

Razek, A. A. K. A., Abdalla, A. F., Barakat, T., Eltaher, H., & Ali, K. M. (2018) · Clinical Imaging · doi:10.1016/j.clinimag.2018.06.011 · Cited by 15 · see citing works

Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India.

Kadali, S., Kolusu, A., Sunkara, S., Gummadi, M. R., & Undamatla, J. (2016) · Clinica chimica acta; international journal of clinical chemistry · doi:10.1016/j.cca.2016.03.004 · Cited by 14 · see citing works

The effects of chemically synthesized saposin C on glucosylceramide-β-glucosidase

Yoneshige, A., Muto, M., Watanabe, T., Hojo, H., & Matsuda, J. (2015) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2015.06.004 · Cited by 8 · see citing works

Genome-wide CRISPRi/a screens in human neurons link lysosomal failure to ferroptosis

Tian, R., Abarientos, A., Hong, J., Hashemi, S. H., Yan, R., Dräger, N., Leng, K., Nalls, M. A., Singleton, A. B., Xu, K., et al. (2021) · Nature Neuroscience · doi:10.1038/s41593-021-00862-0 · Cited by 414 · see citing works

Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease

Oji, Y., Hatano, T., Ueno, S.-I., Funayama, M., Ishikawa, K.-I., Okuzumi, A., Noda, S., Sato, S., Satake, W., Toda, T., et al. (2020) · Brain · doi:10.1093/brain/awaa064 · Cited by 116 · see citing works

Genome-wide CRISPRi/a screens in human neurons link lysosomal failure to ferroptosis

Tian, R., Abarientos, A., Hong, J., Hashemi, S. H., Yan, R., Dräger, N., Leng, K., Nalls, M. A., Singleton, A. B., Xu, K., et al. (2020) · doi:10.1101/2020.06.27.175679 · Cited by 414 · see citing works

The Endo-lysosomal System in Parkinson’s Disease: Expanding the Horizon

Muraleedharan, A., & Vanderperre, B. (2023) · Journal of Molecular Biology · doi:10.1016/j.jmb.2023.168140 · Cited by 27 · see citing works

Lysosomal storage disorders: from biology to the clinic with reference to India

Sheth, J. J., Nair, A., & Jee, B. (2022) · The Lancet Regional Health - Southeast Asia · doi:10.1016/j.lansea.2022.100108 · Cited by 16 · see citing works

Lack of evidence for genetic association of saposins A, B, C and D with Parkinson’s disease

Sosero, Y. L., Bandrés‐Ciga, S., Hassin‐Baer, S., Alcalay, R. N., & Gan‐Or, Z. (2020) · Brain · doi:10.1093/brain/awaa214 · Cited by 15 · see citing works

Prosaposin: A Multifaceted Protein Orchestrating Biological Processes and Diseases

Li, X., & Guo, L. (2025) · Cells · doi:10.3390/cells14151131 · Cited by 13 · see citing works

A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene

Mohamed, F. E., Ali, A., Tenaiji, A. A., Al-Jasmi, A., & Al-Jasmi, F. A. (2022) · Journal of Molecular Neuroscience · doi:10.1007/s12031-022-01987-y · Cited by 10 · see citing works

Lack of evidence for genetic association of saposins A, B, C and D with Parkinson diseasePreprint

Sosero, Y. L., Bandrés‐Ciga, S., Hassin‐Baer, S., Alcalay, R. N., & Gan‐Or, Z. (2020) · medRxiv · doi:10.1101/2020.05.31.20061010

Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat

Minea, C., & Deegan, P. B. (2026) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2026.109865

A rare form of Gaucher disease resulting from saposin C deficiency

Kang, L., Zhan, X., Ye, J., Han, L., Qiu, W., Gu, X., & Zhang, H. (2017) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2017.04.001 · Cited by 34 · see citing works

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

Diaz-Font, A., Cormand, B., Santamaria, R., Vilageliu, L., Grinberg, D., & Chabás, A. (2005) · Human Genetics · doi:10.1007/s00439-005-1288-x · Cited by 48 · see citing works

Non‐neuronopathic Gaucher disease due to saposin C deficiency

Tylki-Szymańska, A., Czartoryska, B., Vanier, M., Poorthuis, B., Groener, J., Ługowska, A., Millat, G., Vaccaro, A. M., & Jurkiewicz, E. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00899.x · Cited by 98 · see citing works

A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene

Mohamed, F. E., Ali, A., Tenaiji, A. A., Al-Jasmi, A., & Al-Jasmi, F. A. (2022) · Journal of Molecular Neuroscience · doi:10.1007/s12031-022-01987-y · Cited by 10 · see citing works

Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

Liaqat, K., Hussain, S., Acharya, A., Nasır, A., Bharadwaj, T., Ansar, M., Basit, S., Schrauwen, I., Ahmad, W., & Leal, S. M. (2022) · Genes · doi:10.3390/genes13040662 · Cited by 10 · see citing works