Results 141 to 150 of about 37,603 (244)

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases. [PDF]

Biomedicines, 2022
La Cognata V, Cavallaro S.
europepmc   +1 more source

Characterization of Lysosomal Hydrolases and Transporters and Their Age‐Dependent Variability: Relevance to Drug Metabolism and Transport of Small Molecule and Biologic Drugs

Clinical Pharmacology &Therapeutics, EarlyView.
Lysosomes play a key role in the accumulation, catabolism, and transport of endogenous and exogenous metabolites and proteins and are involved in drug metabolism and prodrug activation. However, the protein abundance and interindividual variability of lysosomal drug‐metabolizing enzymes and transporters (DMETs) remain underexplored.
Darshak Gadara, Dilip Kumar Singh, Sandhya Subash, Guihua Yue, Deepak Ahire, Chris Bohl, Maciej Czerwinski, Stephanie Helmstetter, Scott Heyward, Robert S. Jones, Cyrus Khojasteh, Ryota Kikuchi, Priyanka Kulkarni, Bin Ma, Bernard Murray, Chris Seib, Bill Smith, David M. Stresser, Mitchell E. Taub, Ting Wang, Bhagwat Prasad   +20 more
wiley   +1 more source

Neurological manifestations of lysosomal storage diseases. [PDF]

Ann Med Surg (Lond)
Elendu C, Babawale EA, Babarinde FO, Babatunde OD, Chukwu C, Chiegboka SF, Shode OP, Ngozi-Ibeh JK, Njoku A, Ikokwu MN, Kaka GU, Hassan JI, Fatungase OO, Osifodunrin T, Udoeze CA, Ikeji VI.   +15 more
europepmc   +1 more source

Advancing the Research and Development of Enzyme Replacement Therapies for Lysosomal Storage Diseases. [PDF]

GEN Biotechnol, 2022
Puhl AC, Ekins S.
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Lysosomal Storage Diseases—Regulating Neurodegeneration

Journal of Experimental Neuroscience, 2016
Rob U. Onyenwoke, Jay E. Brenman
doaj  

Feasibility and efficacy of the forced oscillation technique in patients with lysosomal storage diseases. [PDF]

Sci Rep
Alblooshi A, Zaabi NA, Albadi G, Al-Jasmi FA.   +3 more
europepmc   +1 more source

Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies. [PDF]

Int J Mol Sci, 2022
Stepien KM, Cufflin N, Donald A, Jones S, Church H, Hargreaves IP.   +5 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Extracellular Vesicles as Tools for Crossing the Blood-Brain Barrier to Treat Lysosomal Storage Diseases. [PDF]

Life (Basel)
Lerussi G, Villagrasa-Araya V, Moltó-Abad M, Del Toro M, Pintos-Morell G, Seras-Franzoso J, Abasolo I.   +6 more
europepmc   +1 more source