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Rare Diseases Volume 3, 2015 - Issue 1

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Pompe disease: Shared and unshared features of lysosomal storage disorders

Jeong-A LimLaboratory of Muscle Stem Cells and Gene Regulation; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institutes of Health; Bethesda, MDUSA

Or KakhlonDepartment of Neurology; Hadassah-Hebrew University Medical Center; Ein Kerem, Jerusalem, Israel

Lishu LiLaboratory of Muscle Stem Cells and Gene Regulation; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institutes of Health; Bethesda, MDUSA

Rachel MyerowitzLaboratory of Muscle Stem Cells and Gene Regulation; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institutes of Health; Bethesda, MDUSA;St. Mary's College of Maryland; St. Mary's City, MDUSA

Nina RabenLaboratory of Muscle Stem Cells and Gene Regulation; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institutes of Health; Bethesda, MDUSACorrespondence[email protected]

Article: e1068978 | Received 13 May 2015, Accepted 29 Jun 2015, Published online: 31 Jul 2015

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https://doi.org/10.1080/21675511.2015.1068978
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Carmine Settembre & Rushika M. Perera. (2023) Lysosomes as coordinators of cellular catabolism, metabolic signalling and organ physiology. Nature Reviews Molecular Cell Biology.
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Valentina Sánchez-Porras, Johana Maria Guevara-Morales & Olga Yaneth Echeverri-Peña. (2023) From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease. International Journal of Molecular Sciences 24:15, pages 12481.
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Yu-He Tang, Ganglong Yang & Morihisa Fujita. (2023) Glycoengineering for the Production of Lysosomal Enzymesリソソーム酵素の生産のための糖鎖工学. Trends in Glycoscience and Glycotechnology 35:205, pages J43-J50.
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Yu-He Tang, Ganglong Yang & Morihisa Fujita. (2023) Glycoengineering for the Production of Lysosomal Enzymes. Trends in Glycoscience and Glycotechnology 35:205, pages E42-E49.
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Narumi Sakaguchi & Mikita Suyama. (2022) Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders. npj Genomic Medicine 7:1.
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Haya Abdulkarim & Mohamed Siaj. (2022) Label-free multiplex electrochemical immunosensor for early diagnosis of lysosomal storage disorders. Scientific Reports 12:1.
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Marie WencelAziz ShaibaniNamita A. GoyalMazen M. Dimachkie, Jaya TrivediNicholas E. JohnsonLaurie Gutmann, Matthew P. WicklundSankar BandyopadhayAngela L. GengeMiriam L. FreimerNeelam GoyalAlan Pestronk, Julaine FlorenceChafic KaramJeffrey W. RalphZinah RasheedMelissa HaysSteve HopkinsTahseen Mozaffar. (2021) Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices. Neurology Genetics 7:6.
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Anna Sidorina, Giulio Catesini, Stefano Levi Mortera, Valeria Marzano, Lorenza Putignani, Sara Boenzi, Roberta Taurisano, Matteo Garibaldi, Federica Deodato & Carlo Dionisi‐Vici. (2020) Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding. Journal of Inherited Metabolic Disease 44:3, pages 705-717.
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Zachary J Schreckenberger, Camilla F Wenceslau, Bina Joe & Cameron G McCarthy. (2020) Mitophagy in Hypertension-Associated Premature Vascular Aging. American Journal of Hypertension 33:9, pages 804-812.
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Karolina M. Stepien, Federico Roncaroli, Nadia Turton, Christian J. Hendriksz, Mark Roberts, Robert A. Heaton & Iain Hargreaves. (2020) Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review. Journal of Clinical Medicine 9:8, pages 2596.
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S.M. Salabarria, J. Nair, N. Clement, B.K. Smith, N. Raben, D.D. Fuller, B.J. Byrne & M. Corti. (2020) Advancements in AAV-mediated Gene Therapy for Pompe Disease. Journal of Neuromuscular Diseases 7:1, pages 15-31.
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Pasqualina Colella & Federico Mingozzi. (2019) Gene Therapy for Pompe Disease: The Time is now. Human Gene Therapy 30:10, pages 1245-1262.
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Maria R. Gigliobianco, Piera Di Martino, Siyuan Deng, Cristina Casadidio & Roberta Censi. (2019) New Advanced Strategies for the Treatment of Lysosomal Diseases Affecting the Central Nervous System. Current Pharmaceutical Design 25:17, pages 1933-1950.
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Lorena Perrone, Tiziana Squillaro, Filomena Napolitano, Chiara Terracciano, Simone Sampaolo & Mariarosa Anna Beatrice Melone. (2019) The Autophagy Signaling Pathway: A Potential Multifunctional Therapeutic Target of Curcumin in Neurological and Neuromuscular Diseases. Nutrients 11:8, pages 1881.
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Jeong-A Lim, Haiqing Yi, Fengqin Gao, Nina Raben, Priya S. Kishnani & Baodong Sun. (2019) Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease. Molecular Therapy - Methods & Clinical Development 12, pages 233-245.
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Xinyuan Zhao, Saisai Wei, Zhijian Li, Chen Lin, Zhenfeng Zhu, Desen Sun, Rongpan Bai, Jun Qian, Xiangwei Gao, Guangdi Chen & Zhengping Xu. (2019) Autophagic flux blockage in alveolar epithelial cells is essential in silica nanoparticle-induced pulmonary fibrosis. Cell Death & Disease 10:2.
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Jeong-A Lim, Baodong Sun, Rosa Puertollano & Nina Raben. (2018) Therapeutic Benefit of Autophagy Modulation in Pompe Disease. Molecular Therapy 26:7, pages 1783-1796.
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Allison M. KeelerDonghai LiuMarina ZiegerLang XiongJeffrey SalemiKarl BellvéBarry J. Byrne, David D. Fuller, Ronghua ZhuGeMai K. ElMallah. (2017) Airway smooth muscle dysfunction in Pompe ( Gaa −/− ) mice . American Journal of Physiology-Lung Cellular and Molecular Physiology 312:6, pages L873-L881.
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Annalisa Sechi, Desy Salvadego, Alessandro Da Ponte, Nicole Bertin, Andrea Dardis, Silvia Cattarossi, Grazia Devigili, Federico Reccardini, Bruno Bembi & Bruno Grassi. (2017) Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease. Neuromuscular Disorders 27:6, pages 542-549.
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CindyE McKinney. (2017) Using induced pluripotent stem cells derived neurons to model brain diseases. Neural Regeneration Research 12:7, pages 1062.
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Valentina Favalli, Alessandra Serio, Lorenzo Paolo Giuliani & Eloisa Arbustini. (2017) ‘Precision and personalized medicine,’ a dream that comes true?. Journal of Cardiovascular Medicine 18, pages e1-e6.
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Jing WuYi YangChengjun SunShaoyang SunQiang LiYuxiao YaoFei FeiLingeng LuZhuo ChangWenting ZhangXu WangFeihong Luo. (2017) Disruption of the gaa Gene in Zebrafish Fails to Generate the Phenotype of Classical Pompe Disease . DNA and Cell Biology 36:1, pages 10-17.
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Chun-Yan Lim & Roberto Zoncu. (2016) The lysosome as a command-and-control center for cellular metabolism. Journal of Cell Biology 214:6, pages 653-664.
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Yan Zhu, Polina Fenik, Guanxia Zhan, Rebecca Somach, Ryan Xin & Sigrid Veasey. (2016) Intermittent Short Sleep Results in Lasting Sleep Wake Disturbances and Degeneration of Locus Coeruleus and Orexinergic Neurons. Sleep 39:8, pages 1601-1611.
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Pompe disease: Shared and unshared features of lysosomal storage disorders

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