Results 101 to 110 of about 2,486,172 (179)

Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann-Pick disease type C. [PDF]

Cell Death Dis, 2020
Lee SE, Shin N, Kook MG, Kong D, Kim NG, Choi SW, Kang KS.   +6 more
europepmc   +1 more source

Heparan sulfate binding protein treatment ameliorates neuropathology and behavioral abnormalities in mucopolysaccharidosis IIIB mice

Cell Death Discovery
Mucopolysaccharidosis IIIB (MPS IIIB) is a metabolic neurodegenerative disorder caused by a deficiency of the lysosomal enzyme α-N-acetylglucosaminidase (NAGLU), which is involved in the degradation of heparan sulfate (HS).
Serenella Anzilotti, Melania Scarcella, Mariangela Ciampa, Noemi Di Muraglia, Camilla Anastasio, Chiara Fiorentino, Federica Rossin, Luigi Avallone, Giuseppe Pignataro, Luigi Michele Pavone, Valeria De Pasquale   +10 more
doaj   +1 more source

Lysosomal Storage Diseases: an overview

, 2018
Lysosomal storage diseases (LSDs)are an heterogenous group rare inherited metabolic diseases caused by mutations mutations in proteins critical critical for lysosomal function.FCT PTDC/BIM-MEC/4762/2014N/
Alves, Sandra
core  

Lysosomal storage diseases

, 2012
Individually, lysosomal storage disorders are rare genetic diseases. However, as a group, they are relatively common and represent an important health problem.
Adenegan, Adesola Idowu
core   +1 more source

A human lysosomal storage disorder toolkit for decoding proteome landscapes in cortical-like and dopaminergic-like induced neurons. [PDF]

Proc Natl Acad Sci U S A
Kraus F, He Y, Jiang Y, Li D, Ambaw YA, Gasparoli FM, Paulo JA, Walther TC, Farese RV, Gygi SP, Wilfling F, Harper JW.   +11 more
europepmc   +1 more source

Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report. [PDF]

BJR Case Rep
Bhat S, Sharma S, Bhat S, Kaul A.
europepmc   +1 more source

Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models. [PDF]

Sci Transl Med
Ziółkowska EA, Jansen MJ, Williams LL, Wang SH, Eultgen EM, Takahashi K, Le SQ, Nelvagal HR, Sharma J, Sardiello M, DeBosch BJ, Dickson PI, Anderson JB, Sax SE, Wright CM, Bradley RP, Whiteman IT, Makita T, Grider JR, Sands MS, Heuckeroth RO, Cooper JD.   +21 more
europepmc   +1 more source

Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder. [PDF]

JCI Insight, 2019
Ahrens-Nicklas RC, Tecedor L, Hall AF, Lysenko E, Cohen AS, Davidson BL, Marsh ED.   +6 more
europepmc   +1 more source

Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic. [PDF]

Cell
Logan T, Simon MJ, Rana A, Cherf GM, Srivastava A, Davis SS, Yoon Low RL, Chiu CL, Fang M, Huang F, Bhalla A, Llapashtica C, Prorok R, Pizzo ME, Calvert MEK, Sun EW, Hsiao-Nakamoto J, Rajendra Y, Lexa KW, Srivastava DB, van Lengerich B, Wang J, Robles-Colmenares Y, Kim DJ, Duque J, Lenser M, Earr TK, Nguyen H, Chau R, Tsogtbaatar B, Ravi R, Skuja LL, Solanoy H, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Dennis MS, Kariolis MS, Monroe KM, Przybyla L, Sanchez PE, Meisner R, Diaz D, Henne KR, Watts RJ, Henry AG, Gunasekaran K, Astarita G, Suh JH, Lewcock JW, DeVos SL, Di Paolo G.   +52 more
europepmc   +1 more source

Lysosomal storage disorder gene variants in multiple system atrophy. [PDF]

Brain, 2018
Pihlstrøm L, Schottlaender L, Chelban V, MSA Exome Consortium, Meissner WG, Federoff M, Singleton A, Houlden H.   +7 more
europepmc   +1 more source