المؤلفون: Xia, Jianhong¹ (AUTHOR) jhxia2006@163.com, Wang, Haiyun^1,2 (AUTHOR) sunny.haiyun@gmail.com, Zhong, Zhihang^3,4 (AUTHOR) zhongzhihanggood@163.com, Jiang, Jun^3,4 (AUTHOR) jiangjun@scau.edu.cn

المصدر: Cells (2073-4409). Jun2024, Vol. 13 Issue 11, p953. 18p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *MTOR inhibitors, *CELL culture, *BRACHYDANIO, *HOMEOSTASIS

المؤلفون: Kuznetsov, Alexander¹ (AUTHOR), Sheshil, Andrey¹ (AUTHOR), Smolin, Eugene¹ (AUTHOR), Grudtsov, Vitaliy¹ (AUTHOR), Ryazantsev, Dmitriy¹ (AUTHOR), Shustinskiy, Mark¹ (AUTHOR), Tikhonova, Tatiana¹ (AUTHOR), Kitiashvili, Irakli² (AUTHOR), Vechorko, Valerii² (AUTHOR), Komarova, Natalia¹ (AUTHOR) nat.v.kom@gmail.com

المصدر: Sensors (14248220). Jun2024, Vol. 24 Issue 11, p3681. 12p.

مصطلحات موضوعية: *FIELD-effect transistors, *LYSOSOMAL storage diseases, *ANGIOKERATOMA corporis diffusum, *ENZYME replacement therapy, *NEWBORN screening, *COMPLEMENTARY metal oxide semiconductors

المؤلفون: Tsap, Mariana I.¹, Yatsenko, Andriy S.¹, Hegermann, Jan², Beckmann, Bibiana³, Tsikas, Dimitrios³, Shcherbata, Halyna R.^1,4 Shcherbata.Halyna@mhhannover.de

المصدر: eLife. 5/13/2024, p1-34. 34p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *BLOOD-brain barrier, *FATTY acids, *INFLAMMATION, *METABOLISM, *ANTI-inflammatory agents

المؤلفون: Muñoz-Oreja, Mikel^1,2,3 (AUTHOR), Sandoval, Abigail⁴ (AUTHOR), Bruland, Ove⁵ (AUTHOR), Perez-Rodriguez, Diego⁶ (AUTHOR), Fernandez-Pelayo, Uxoa¹ (AUTHOR), Arbina, Amaia Lopez de¹ (AUTHOR), Villar-Fernandez, Marina¹ (AUTHOR), Hernández-Eguiazu, Haizea¹ (AUTHOR), Hernández, Ixiar² (AUTHOR), Park, Yohan⁴ (AUTHOR), Goicoechea, Leire^7,8,9 (AUTHOR), Pascual-Frías, Nerea^1,10 (AUTHOR), Garcia-Ruiz, Carmen^7,8,9 (AUTHOR), Fernandez-Checa, Jose^7,8,9,11 (AUTHOR), Martí-Carrera, Itxaso^1,2,3,12 (AUTHOR), Gil-Bea, Francisco Javier¹ (AUTHOR), Hasan, Mazahir T^13,14 (AUTHOR), Gegg, Matthew E⁶ (AUTHOR), Bredrup, Cecilie^15,16 (AUTHOR), Knappskog, Per-Morten¹⁷ (AUTHOR)

المصدر: Brain: A Journal of Neurology. May2024, Vol. 147 Issue 5, p1899-1913. 15p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *CHOLESTEROL, *CHOLESTEROL metabolism, *CELL membranes, *GLYCOGEN storage disease type II

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: Li, Joyce Wai-Yin¹ (AUTHOR), Yan, Kevin¹ (AUTHOR), Balijepalli, Chakrapani¹ (AUTHOR), Druyts, Eric¹ (AUTHOR) eric.druyts@pharmalyticsgroup.com

المصدر: Current Medical Research & Opinion. Apr2024, Vol. 40 Issue 4, p709-722. 14p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *SOCIAL skills, *GLYCOGEN storage disease type II

المؤلفون: Huang, Guiwu^1,2,3 (AUTHOR), Jian, Jinlong^1,2 (AUTHOR), Liu, Chuan-Ju^1,2,4 (AUTHOR) chuan-ju.liu@yale.edu

المصدر: Cytokine & Growth Factor Reviews. Apr2024, Vol. 76, p142-159. 18p.

مصطلحات موضوعية: *PROGRANULIN, *LYSOSOMAL storage diseases, *PERIPHERAL nervous system, *PROTEIN microarrays, *MUSCULOSKELETAL system diseases, *DEGENERATION (Pathology)

المؤلفون: Servín Muñoz, Iris Valeria¹ (AUTHOR) iris.servin@alumnos.udg.mx, Ortuño-Sahagún, Daniel¹ (AUTHOR) daniel.ortuno@academicos.udg.mx, Griñán-Ferré, Christian^2,3 (AUTHOR) christian.grinan@ub.edu, Pallàs, Mercè^2,3 (AUTHOR) pallas@ub.edu, González-Castillo, Celia⁴ (AUTHOR) daniel.ortuno@academicos.udg.mx

المصدر: International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 7, p3806. 17p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *HISTONE deacetylase inhibitors, *MUTANT proteins, *PROTEIN folding, *ALZHEIMER'S disease

المؤلفون: Álvarez, J. Victor.^1,2 (AUTHOR) jose.victor.alvarez.gonzalez@sergas.es, Bravo, Susana B.³ (AUTHOR) sbbravo@gmail.com, Chantada-Vázquez, María Pilar³ (AUTHOR) mariadelpilarchantadavazquez@gmail.com, Pena, Carmen³ (AUTHOR) carmen.pena.pena@sergas.es, Colón, Cristóbal^1,2 (AUTHOR) cristobal.colon.mejeras@sergas.es, Tomatsu, Shunji⁴ (AUTHOR) stomatsu@nemours.org, Otero-Espinar, Francisco J.^5,6 (AUTHOR) francisco.otero@usc.es, Couce, María L.^1,2 (AUTHOR) maria.luz.couce.pico@sergas.es

المصدر: International Journal of Molecular Sciences. Mar2024, Vol. 25 Issue 6, p3232. 28p.

مصطلحات موضوعية: *MOLECULAR interactions, *LYSOSOMAL storage diseases, *KNOCKOUT mice, *ENZYME deficiency, *REACTIVE oxygen species, *LACTATE dehydrogenase, *SULFATASES, *BLOOD coagulation factor XIII

المؤلفون: Jerves Serrano, Teodoro¹ (AUTHOR) teodoro.jervesserrano@yale.edu, Gold, Jessica² (AUTHOR) goldj@chop.edu, Cooper, James A.³ (AUTHOR) james.cooper@mft.nhs.uk, Church, Heather J.³ (AUTHOR) heather.church@mft.nhs.uk, Tylee, Karen L.³ (AUTHOR) karen.tylee@mft.nhs.uk, Wu, Hoi Yee³ (AUTHOR) hoiyee.wu@mft.nhs.uk, Kim, Sun Young⁴ (AUTHOR) sunyoung.kim@cchmc.org, Stepien, Karolina M.^5,6 (AUTHOR) teodoro.jervesserrano@yale.edu

المصدر: Journal of Clinical Medicine. Mar2024, Vol. 13 Issue 5, p1465. 19p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *LIFE expectancy, *GLYCOGEN storage disease type II, *DIAGNOSIS, *MEMBRANE proteins, *METABOLIC disorders, *HEPATOMEGALY