Results 111 to 120 of about 4,843,979 (151)

Restoration of lysosomal membrane integrity in cell models of Pompe disease depends on fatty acid synthase and its product palmitic acid. [PDF]

Cell Mol Biol Lett
Le Guillou E, Segaloni A, Gadault A, Oliveira Dias C, Henneman NF, Su M, Nemazanyy I, Hifdi N, Nivet-Antoine V, Laemmerhofer M, Hnia K, Caillaud C, Panasyuk G.   +12 more
europepmc   +1 more source

Broadening applications for intrathecal gene therapy: a case for lysosomal storage diseases. [PDF]

EBioMedicine
eBioMedicine.
europepmc   +1 more source

Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets. [PDF]

Nat Rev Neurol
Ziółkowska EA, Takahashi K, Dickson PI, Sardiello M, Sands MS, Cooper JD.   +5 more
europepmc   +1 more source

Naturally occurring lysosomal storage disease consistent with neuronal ceroid lipofuscinosis in a group of 5 related captive rhesus macaques (<i>Macaca mulatta</i>). [PDF]

Vet Pathol
Olstad K, Pastenkos G, Barrera-Zarate J, Kanthaswamy S, Sammak R, Lemoy MJ.   +5 more
europepmc   +1 more source

SARS-CoV-2 intra-host viral diversity associated with host innate and vaccine-induced immunity in an obese mouse model. [PDF]

BMC Infect Dis
Song W, Chen Y, Tong Y, Liu F, Li C, Ye Z, Ren P, Wang J, Cui X, Lam AH, Chu H, Li J, Chan JF, Yuen KY, Ou Z, Zhang AJ.   +15 more
europepmc   +1 more source

Management Strategies for CLN2 Disease [PDF]

Pediatric Neurology, 2017
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by ...
Boris Zernikow, Mary-Anne Leung, Angela Schulz   +2 more
exaly   +6 more sources

Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies [PDF]

Expert Review of Neurotherapeutics, 2021
Introduction : Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric neurodegenerative condition, which is usually fatal by mid-adolescence.
Igor Prpic, Ruzica Kravljanac, Pasquale Striano   +2 more
exaly   +6 more sources