Mitochondrial Dysfunction in Lysosomal Storage Disorders by Mario de la Mata, David Cotán, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M. Suárez-Rivero, Gustavo Tiscornia, Manuel Oropesa-Ávila

Subjects: “…lysosomal storage disorders…”
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The Role of Exosomes in Lysosomal Storage Disorders by Adenrele M. Gleason, Elizabeth G. Woo, Cindy McKinney, Ellen Sidransky

“…Most cell types in the central nervous system (CNS) release exosomes, which serve as long and short distance communicators between neurons, astrocytes, oligodendrocytes, and microglia. Lysosomal storage disorders are diseases characterized by the accumulation of partially or undigested cellular waste. …”
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Gene Therapy for Lysosomal Storage Disorders by Esteban Alberto Gonzalez MSc, Guilherme Baldo PhD

“…Lysosomal storage disorders (LSDs) are a group of diseases with multisystemic features. …”
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Newborn Screening for Lysosomal Storage Disorders in Belgium by Francois Eyskens MD, PhD, Sylvie Devos PhD

“…Lysosomal storage disorders (LSDs) are a group of metabolic disorders with various clinical presentations, which complicate diagnosis. …”
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Spectrum of Paediatric Lysosomal Storage Disorders in Oman by Almundher A Al-Maawali, Surendra N Joshi, Roshan L Koul, Ali A Al-Maawali, Hilal S Al-Sedari, Bader M Al-Amri, Amna M Al-Futaisi

Subjects: “…lysosomal storage disorders…”
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Unsheathing new insights into lysosomal storage disorders by Kirsty M. Hooper

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Knowledge of Primary Care Physicians on Lysosomal Storage Disorders by Engin Köse, Selda Bülbül, Nur Arslan

“…Aim:Since patients with lysosomal storage disorders (LSDs) often apply to primary care physicians initially, these doctors play a crucial role in the early diagnosis of LSDs. …”
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Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches by Enrico Moro

Subjects: “…lysosomal storage disorders…”
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Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders by Alex E. Ryckman, Inka Brockhausen, Jagdeep S. Walia

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Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry by Ryuichi Mashima, Torayuki Okuyama, Mari Ohira

Subjects: “…Lysosomal storage disorders…”
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Therapeutic applications of imino sugars in lysosomal storage disorders. by Butters, T, Dwek, R, Platt, F

“…A therapeutic approach termed 'substrate deprivation' or 'substrate reduction therapy' (SRT) aims to reduce biosynthetic capability in the cell to match the reduced lysosomal catalytic activity seen in lysosomal storage disorders. The use of N-alkylated imino sugars to establish this therapeutic strategy is described in cell culture and gene knockout mouse disease models. …”

Inhibition of glycosphingolipid biosynthesis: application to lysosomal storage disorders. by Butters, T, Dwek, R, Platt, F

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder by Naresh K. Meena, Nina Raben

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ARE ENZYME REPLACEMENT THERAPIES EFFECTIVE AGAINST LYSOSOMAL STORAGE DISORDERS? by Taimoor Hassan, Xu Huadong

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Induced pluripotent stem cell models of lysosomal storage disorders by Daniel K. Borger, Benjamin McMahon, Tamanna Roshan Lal, Jenny Serra-Vinardell, Elma Aflaki, Ellen Sidransky

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Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat by Bruno Hay Mele, Federica Rossetti, Maria Vittoria Cubellis, Maria Monticelli, Giuseppina Andreotti

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Neurodegenerative Lysosomal Storage Disorders: TPC2 Comes to the Rescue! by Sandra Prat Castro, Veronika Kudrina, Dawid Jaślan, Julia Böck, Anna Scotto Rosato, Christian Grimm

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Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review by Karolina M. Stepien, Federico Roncaroli, Nadia Turton, Christian J. Hendriksz, Mark Roberts, Robert A. Heaton, Iain Hargreaves

“…Mitochondrial dysfunction is emerging as an important contributory factor to the pathophysiology of lysosomal storage disorders (LSDs). The cause of mitochondrial dysfunction in LSDs appears to be multifactorial, although impaired mitophagy and oxidative stress appear to be common inhibitory mechanisms shared amongst these heterogeneous disorders. …”
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Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders. by Butters, T, Mellor, H, Narita, K, Dwek, R, Platt, F

“…Glycosphingolipid (GSL) lysosomal storage disorders are a small but challenging group of human diseases to treat. …”

Acetyl-Leucine slows disease progression in lysosomal storage disorders by Kaya, E, Smith, DA, Smith, C, Morris, L, Fineran, P, Morten, KJ, Poulton, J, Frances Platt

“…In observational clinical studies acetyl-DL-leucine improved symptoms of ataxia, in particular in patients with the lysosomal storage disorder, Niemann-Pick disease type C1. Here, we investigated acetyl-DL-leucine and its enantiomers acetyl-L-leucine and acetyl-D-leucine in symptomatic Npc1-/- mice and observed improvement in ataxia with both individual enantiomers and acetyl-DL-leucine. …”