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Expert Opinion on Orphan Drugs Volume 3, 2015 - Issue 5
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Review

Pathogenesis, emerging therapeutic targets and treatment in sialidosis

Alessandra D’AzzoSt. Jude Children’s Research Hospital, Department of Genetics, 262 Danny Thomas Pl, Memphis, TN 38105, USA+1 901 495 2698; +1 901 526 2907; [email protected]
,
Eda MachadoSt. Jude Children’s Research Hospital, Department of Genetics, 262 Danny Thomas Pl, Memphis, TN 38105, USA+1 901 495 2698; +1 901 526 2907; [email protected]
&
Ida AnnunziataSt. Jude Children’s Research Hospital, Department of Genetics, 262 Danny Thomas Pl, Memphis, TN 38105, USA+1 901 495 2698; +1 901 526 2907; [email protected]
Pages 491-504 | Published online: 13 Apr 2015

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Shweta Bhat & Subramaniam Ganesh. (2018) New discoveries in progressive myoclonus epilepsies: a clinical outlook. Expert Review of Neurotherapeutics 18:8, pages 649-667.
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Roger Sandhoff & Konrad Sandhoff. 2023. Glycobiology of the Nervous System. Glycobiology of the Nervous System 333 390 .
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Claudia Capitini, Federica Feo, Anna Caciotti, Rodolfo Tonin, Matteo Lulli, Domenico Coviello, Renzo Guerrini, Martino Calamai & Amelia Morrone. (2022) Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C. Biomedicines 10:8, pages 1962.
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Benjamin S Haslund-Gourley, Peter V Aziz, Douglas M Heithoff, Damien Restagno, Jeffrey C Fried, Mai-Britt Ilse, Hannah Bäumges, Michael J Mahan, Torben Lübke & Jamey D Marth. (2022) Establishment of blood glycosidase activities and their excursions in sepsis. PNAS Nexus 1:3.
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Aiza Khan & Consolato M. Sergi. (2022) NEU1—A Unique Therapeutic Target for Alzheimer’s Disease. Frontiers in Pharmacology 13.
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Ashish O. Gupta, Marc C. Patterson, Tim Wood, Julie B. Eisengart, Paul J. Orchard & Troy C. Lund. (2022) Hematopoietic cell transplantation for sialidosis type I. Molecular Genetics and Metabolism Reports 30, pages 100832.
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Felipe Vial, Patrick McGurrin, Sanaz Attaripour, Alesandra d'Azzo, Cynthia J. Tifft, Camilo Toro & Mark Hallett. (2022) Myoclonus generators in sialidosis. Clinical Neurophysiology Practice 7, pages 169-173.
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Huimin Hu, Rosario Mosca, Elida Gomero, Diantha van de Vlekkert, Yvan Campos, Leigh E. Fremuth, Scott A. Brown, Jason A. Weesner, Ida Annunziata & Alessandra d’Azzo. (2021) AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study. Molecular Therapy - Methods & Clinical Development 23, pages 644-658.
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Malena Daich Varela, Wadih M Zein, Camilo Toro, Catherine Groden, Jean Johnston, Laryssa A Huryn, Alessandra d’Azzo, Cynthia J Tifft & Edmond J FitzGibbon. (2021) A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot. British Journal of Ophthalmology 105:6, pages 838-843.
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Jennifer J. Klein, Nancy C. Baker, Daniel H. Foil, Kimberley M. Zorn, Fabio Urbina, Ana C. Puhl & Sean Ekins. (2021) Using Bibliometric Analysis and Machine Learning to Identify Compounds Binding to Sialidase-1. ACS Omega 6:4, pages 3186-3193.
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Min-Joon Han, Ida Annunziata, Jason Weesner, Yvan Campos, Muneeb Salie, Carla O'Reilly & Alessandra d'Azzo. (2020) Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations. Stem Cell Research 46, pages 101836.
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Hideki Ohnota, Hiromi Nakazawa, Morimichi Hayashi, Yuji Okuhara, Takayuki Honda, Alessandra d’Azzo & Yoshiki Sekijima. (2020) Skeletal muscle cells derived from mouse skin cultures. Biochemical and Biophysical Research Communications 528:2, pages 398-403.
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Bernadette Breiden & Konrad Sandhoff. (2020) Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease. International Journal of Molecular Sciences 21:7, pages 2566.
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Gregory L. Holmes. (2020) Drug Treatment of Progressive Myoclonic Epilepsy. Pediatric Drugs 22:2, pages 149-164.
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Rosario Mosca, Diantha van de Vlekkert, Yvan Campos, Leigh E. Fremuth, Jaclyn Cadaoas, Vish Koppaka, Emil Kakkis, Cynthia Tifft, Camilo Toro, Simona Allievi, Cinzia Gellera, Laura Canafoglia, Gepke Visser, Ida Annunziata & Alessandra d’Azzo. (2020) Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I. Journal of Clinical Medicine 9:3, pages 695.
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Hans-Ulrich Bender, Ingo BorggraefeEva CoppenrathEsther Maria Maier. (2019) Multiple foraminal compression in a child with sialidosis type 2. Neurology 93:4, pages 168-169.
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Diantha van de Vlekkert, Jeroen Demmers, Xinh-Xinh NguyenYvan CamposEda Machado, Ida AnnunziataHuimin HuElida Gomero, Xiaohui QiuAntonella Bongiovanni, Carol A. Feghali-Bostwick & Alessandra d’Azzo. (2019) Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis. Science Advances 5:7.
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Jong Hyeon Ahn, Ah Reum Kim, Chung Lee, Nayoung K. D. Kim, Nam-Soon Kim, Woong-Yang Park, Minkyeong Kim, Jinyoung Youn, Jin Whan Cho & Ji Sun Kim. (2019) Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review. The Cerebellum 18:3, pages 659-664.
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Roger Sandhoff & Konrad Sandhoff. (2018) Emerging concepts of ganglioside metabolism. FEBS Letters 592:23, pages 3835-3864.
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Su-Ching Hu, Kun-Long Hung, Hui-Ju Chen & Wang-Tso Lee. (2018) Seizure remission and improvement of neurological function in sialidosis with perampanel therapy. Epilepsy & Behavior Case Reports 10, pages 32-34.
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I-Hua Wang, Ting-Yu Lin & Shu-Ting Kao. (2017) Optical coherence tomography features in a case of Type I sialidosis. Taiwan Journal of Ophthalmology 7:2, pages 108.
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