المؤلفون: Farhat, Nicole Y.¹ (AUTHOR) nicole.farhat@nih.gov, Alexander, Derek¹ (AUTHOR) derek.alexander@nih.gov, McKee, Kyli¹ (AUTHOR) kyli.a.mckee@gmail.com, Iben, James² (AUTHOR) james.iben@nih.gov, Rodriguez-Gil, Jorge L.³ (AUTHOR) jrgil@stanford.edu, Wassif, Christopher A.¹ (AUTHOR) christopher.wassif@astrazeneca.com, Cawley, Niamh X.¹ (AUTHOR) cawleyn@mail.nih.gov, Balch, William E.⁴ (AUTHOR) webalch@scripps.edu, Porter, Forbes D.¹ (AUTHOR) fdporter@mail.nih.gov

المصدر: International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 8, p4217. 14p.

مصطلحات موضوعية: *NIEMANN-Pick diseases, *LYSOSOMAL storage diseases, *GENE expression, *NATURAL history, *AGE of onset

المؤلفون: Schlotawa, L.¹ (AUTHOR), Matysiak, K.¹ (AUTHOR), Kettwig, M.¹ (AUTHOR), Ahrens-Nicklas, R. C.² (AUTHOR), Baud, M.³ (AUTHOR), Berulava, T.⁴ (AUTHOR), Brunetti-Pierri, N.^5,6 (AUTHOR), Gagne, A.^7,8 (AUTHOR), Herbst, Z. M.⁹ (AUTHOR), Maguire, J. A.^7,8 (AUTHOR), Monfregola, J.^5,6 (AUTHOR), Pena, T.^4,10 (AUTHOR), Radhakrishnan, K.¹¹ (AUTHOR), Schröder, S.⁴ (AUTHOR), Waxman, E. A.^2,8 (AUTHOR), Ballabio, A.^5,6,12 (AUTHOR), Dierks, T.¹¹ (AUTHOR), Fischer, A.^4,13,14 (AUTHOR), French, D. L.^7,8 (AUTHOR), Gelb, M. H.⁹ (AUTHOR)

المصدر: Neuropediatrics. 2023 Supplement 1, Vol. 54, pS1-S32. 32p.

مصطلحات موضوعية: *SULFATASES, *LYSOSOMAL storage diseases, *HIGH throughput screening (Drug development), *NEURODEGENERATION, *RESEARCH personnel, *GLYCOGEN storage disease type II

المؤلفون: Cen, Jianke, Hu, Nan, Shen, Jiawen, Gao, Yongjing, Lu, Huanjun

المصدر: International Journal of Molecular Sciences; Jun2024, Vol. 25 Issue 12, p6565, 22p

مصطلحات موضوعية: ION channels, CENTRAL nervous system, LYSOSOMAL storage diseases, DRUG target, GENETIC variation, NEURODEGENERATION

المؤلفون: Sarah R. Akaaboune, Yanzhuang Wang

المصدر: Frontiers in Cell & Developmental Biology; 2024, p1-23, 23p

مصطلحات موضوعية: LYSOSOMAL storage diseases, GOLGI apparatus, CELL survival, HOMEOSTASIS, NEURODEGENERATION

المؤلفون: Gregorio, Ilaria, Russo, Loris, Torretta, Enrica, Barbacini, Pietro, Contarini, Gabriella, Pacinelli, Giada, Bizzotto, Dario, Moriggi, Manuela, Braghetta, Paola, Papaleo, Francesco, Gelfi, Cecilia, Moro, Enrico, Cescon, Matilde

المصدر: Molecular Neurodegeneration; 3/7/2024, Vol. 19 Issue 1, p1-25, 25p

مصطلحات موضوعية: OLIGODENDROGLIA, MYELINATION, CENTRAL nervous system, HOMEOSTASIS, LYSOSOMAL storage diseases, PARKINSON'S disease, WESTERN immunoblotting

المؤلفون: Keller, Stefan H., Johnson, Gary S., Bullock, Garrett, Mhlanga-Mutangadura, Tendai, Schwartz, Malte, Pattridge, Savannah G., Guo, Juyuan, Kortz, Gregg D., Katz, Martin L.

المصدر: Genes; Feb2024, Vol. 15 Issue 2, p246, 27p

مصطلحات موضوعية: MYELIN proteins, MYELIN, NEURONAL ceroid-lipofuscinosis, LYSOSOMAL storage diseases, NEUROLOGICAL disorders, MYOCARDIUM

المؤلفون: Papini, Nadia¹ (AUTHOR), Todisco, Roberta¹ (AUTHOR), Giussani, Paola¹ (AUTHOR), Dei Cas, Michele² (AUTHOR), Paroni, Rita² (AUTHOR), Giallanza, Chiara¹ (AUTHOR), Tringali, Cristina¹ (AUTHOR) cristina.tringali@unimi.it

المصدر: International Journal of Molecular Sciences. Mar2023, Vol. 24 Issue 6, p5984. 19p.

مصطلحات موضوعية: *AUTOPHAGY, *LYSOSOMAL storage diseases, *PHOSPHORYLATION, *NEURODEGENERATION

المؤلفون: Koohmanaee, Shahin¹, Nouri, Seyyedeh Azadeh Hoseini¹, Aminzadeh, Vahid¹, Tabrizi, Manijeh¹, Bayat, Reza¹, Kharaee, Fatemeh¹, Shahrokhi, Maryam², Rad, Afagh Hassanzadeh¹, Chakoosari, Saber Najafi³, Dalili, Setila¹ setiladalili1346@yahoo.com, Leili, Ehsan Kazemnejad¹

المصدر: Caspian Journal of Neurological Sciences. Winter2023, Vol. 9 Issue 1, p50-55. 6p.

مصطلحات موضوعية: *NEURONAL ceroid-lipofuscinosis, *LYSOSOMAL storage diseases, *GENETIC mutation, *NEURODEGENERATION, *VISION disorders, *DISEASE progression

المؤلفون: Rajan, Deepa S¹ (AUTHOR), Escolar, Maria L¹ (AUTHOR) MLE26@pitt.edu

المصدر: Metabolic Brain Disease. Oct2022, Vol. 37 Issue 7, p2245-2256. 12p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *THERAPEUTICS, *GENETIC disorders, *ENZYME replacement therapy, *GENETIC mutation, *LYSOSOMES

المؤلفون: Stepien, Karolina M.¹ (AUTHOR) kstepien@doctors.org.uk, Cufflin, Neve² (AUTHOR), Donald, Aimee³ (AUTHOR), Jones, Simon³ (AUTHOR), Church, Heather³ (AUTHOR), Hargreaves, Iain P.² (AUTHOR)

المصدر: International Journal of Molecular Sciences. Sep2022, Vol. 23 Issue 18, pN.PAG-N.PAG. 21p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *LYSOSOMES, *GAUCHER'S disease, *NIEMANN-Pick diseases, *MITOCHONDRIA, *DISEASE complications