References analysis of the Wikipedia article "ГМ1 ганглиозидоза" in the Serbian version

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Nicoli, Elena-Raluca; Annunziata, Ida; d’Azzo, Alessandra; Platt, Frances M.; Tifft, Cynthia J.; Stepien, Karolina M. (2021). „GM1 Gangliosidosis—A Mini-Review”. Frontiers in Genetics. 12. ISSN 1664-8021. doi:10.3389/fgene.2021.734878/full.

Arash-Kaps, Laila; Komlosi, Katalin; Seegräber, Marlene; Diederich, Stefan; Paschke, Eduard; Amraoui, Yasmina; Beblo, Skadi; Dieckmann, Andrea; Smitka, Martin; Hennermann, Julia B. (2019). „The Clinical and Molecular Spectrum of GM1 Gangliosidosis”. The Journal of Pediatrics. 215. PMID 31761138. S2CID 208274588. doi:10.1016/j.jpeds.2019.08.016.

Jarnes Utz, Jeanine R.; Kim, Sarah; King, Kelly; Ziegler, Richard; Schema, Lynn; Redtree, Evelyn S.; Whitley, Chester B. (2017). „Infantile gangliosidoses: Mapping a timeline of clinical changes”. Molecular Genetics and Metabolism. 121 (2): 170—179. PMC 5727905 

. PMID 28476546. doi:10.1016/j.ymgme.2017.04.011.

Iyer, Neel S.; Gimovsky, Alexis C.; Ferreira, Carlos R.; Critchlow, Elizabeth; Al‐Kouatly, Huda B. (2021). „Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review”. Clinical Genetics. 100 (5): 493—503. PMID 34057202. S2CID 235256639. doi:10.1111/cge.14005.

Tonin, Rodolfo; Caciotti, Anna; Procopio, Elena; Fischetto, Rita; Deodato, Federica; Mancardi, Maria Margherita; Di Rocco, Maja; Ardissone, Anna; Salviati, Alessandro; Marangi, Antonio; Strisciuglio, Pietro; Mangone, Giusi; Casini, Arianna; Ricci, Silvia; Fiumara, Agata; Parini, Rossella; Pavone, Francesco Saverio; Guerrini, Renzo; Calamai, Martino; Morrone, Amelia (2019). „Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content”. Scientific Reports. 9 (1): 17684. Bibcode:2019NatSR...917684T. PMC 6881353 

. PMID 31776384. doi:10.1038/s41598-019-53995-5.

Ferreira, Carlos R.; Regier, Debra S.; Yoon, Robin; Pan, Kristen S.; Johnston, Jean M.; Yang, Sandra; Spranger, Jürgen W.; Tifft, Cynthia J. (2020). „The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention”. Bone. 131. PMC 6937522 

. PMID 31704340. doi:10.1016/j.bone.2019.115142.

Gray-Edwards, Heather L.; Jiang, Xuntian; Randle, Ashley N.; Taylor, Amanda R.; Voss, Taylor L.; Johnson, Aime K.; McCurdy, Victoria J.; Sena-Esteves, Miguel; Ory, Daniel S.; Martin, Douglas R. (2017). „Lipidomic Evaluation of Feline Neurologic Disease after AAV Gene Therapy”. Molecular Therapy - Methods & Clinical Development. 6: 135—142. PMC 5545771 

. PMID 28808666. doi:10.1016/j.omtm.2017.07.005.

Regier, Debra S.; Kwon, Hyuk Joon; Johnston, Jean; Golas, Gretchen; Yang, Sandra; Wiggs, Edythe; Latour, Yvonne; Thomas, Sarah; Portner, Cindy; Adams, David; Vezina, Gilbert; Baker, Eva H.; Tifft, Cynthia J. (2015). „MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis”. American Journal of Medical Genetics Part A. 170 (3): 634—644. PMID 26646981. S2CID 19466710. doi:10.1002/ajmg.a.37468.

Abumansour, Iman S.; Yuskiv, Nataliya; Paschke, Eduard; Stockler‐Ipsiroglu, Sylvia (2019). „Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex”. Jimd Reports. 51 (1): 30—44. PMC 7012745 

. PMID 32071837. doi:10.1002/jmd2.12065.

Breiden, Bernadette; Sandhoff, Konrad (2019). „Lysosomal Glycosphingolipid Storage Diseases”. Annual Review of Biochemistry. 88 (1): 461—485. PMID 31220974. S2CID 195192428. doi:10.1146/annurev-biochem-013118-111518.

Ohto, Umeharu; Usui, Kimihito; Ochi, Toshinari; Yuki, Kenjiro; Satow, Yoshinori; Shimizu, Toshiyuki (2012). „Crystal Structure of Human β-Galactosidase”. Journal of Biological Chemistry. 287 (3): 1801—1812. PMC 3265862 

. PMID 22128166. doi:10.1074/jbc.M111.293795 

Rha, Allisandra K.; Maguire, Anne S.; Martin, Douglas R. (2021). „GM1 Gangliosidosis: Mechanisms and Management”. The Application of Clinical Genetics. 14: 209—233. PMC 8044076 

. PMID 33859490. doi:10.2147/TACG.S206076 

Gorelik, Alexei; Illes, Katalin; Hasan, S. M. Naimul; Nagar, Bhushan; Mazhab-Jafari, Mohammad T. (2021). „Structure of the murine lysosomal multienzyme complex core”. Science Advances. 7 (20). Bibcode:2021SciA....7.4155G. doi:10.1126/sciadv.abf4155.

Brunetti-Pierri, Nicola; Scaglia, Fernando (2008). „GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects”. Molecular Genetics and Metabolism. 94 (4): 391—396. PMID 18524657. doi:10.1016/j.ymgme.2008.04.012.

Platt, Frances M.; d'Azzo, Alessandra; Davidson, Beverly L.; Neufeld, Elizabeth F.; Tifft, Cynthia J. (2018). „Lysosomal storage diseases”. Nature Reviews Disease Primers. 4 (1): 27. PMID 30275469. S2CID 52896843. doi:10.1038/s41572-018-0025-4.

Cox, Timothy; Lachmann, Robin; Hollak, Carla; Aerts, Johannes; Van Weely, Sonja; Hrebícek, Martin; Platt, Frances; Butters, Terry; Dwek, Raymond; Moyses, Chris; Gow, Irene; Elstein, Deborah; Zimran, Ari (2000). „Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis”. The Lancet. 355 (9214): 1481—1485. PMID 10801168. S2CID 45987273. doi:10.1016/S0140-6736(00)02161-9.

Kasperzyk, Julie L.; El-Abbadi, Mohga M.; Hauser, Eric C.; d'Azzo, Alessandra; Platt, Frances M.; Seyfried, Thomas N. (2004). „N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis”. Journal of Neurochemistry. 89 (3): 645—653. PMID 15086521. S2CID 40431744. doi:10.1046/j.1471-4159.2004.02381.x.

Deodato, Federica; Procopio, Elena; Rampazzo, Angelica; Taurisano, Roberta; Donati, Maria Alice; Dionisi-Vici, Carlo; Caciotti, Anna; Morrone, Amelia; Scarpa, Maurizio (2017). „The treatment of juvenile/Adult GM1-gangliosidosis with Miglustat may reverse disease progression”. Metabolic Brain Disease. 32 (5): 1529—1536. PMID 28577204. S2CID 254795029. doi:10.1007/s11011-017-0044-y.

Peterschmitt, M. Judith; Crawford, Nigel P. S.; Gaemers, Sebastiaan J. M.; Ji, Allena J.; Sharma, Jyoti; Pham, Theresa T. (2021). „Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral Venglustat in Healthy Volunteers”. Clinical Pharmacology in Drug Development. 10 (1): 86—98. PMC 7818513 

. PMID 32851809. doi:10.1002/cpdd.865.

Matsuda, Junichiro; Suzuki, Osamu; Oshima, Akihiro; Yamamoto, Yoshie; Noguchi, Akira; Takimoto, Kazuhiro; Itoh, Masayuki; Matsuzaki, Yuji; Yasuda, Yosuke; Ogawa, Seiichiro; Sakata, Yuko; Nanba, Eiji; Higaki, Katsumi; Ogawa, Yoshimi; Tominaga, Lika; Ohno, Kousaku; Iwasaki, Hiroyuki; Watanabe, Hiroshi; Brady, Roscoe O.; Suzuki, Yoshiyuki (2003). „Chemical chaperone therapy for brain pathology in G _M1 -gangliosidosis”. Proceedings of the National Academy of Sciences. 100 (26): 15912—15917. Bibcode:2003PNAS..10015912M. PMC 307667 

. PMID 14676316. doi:10.1073/pnas.2536657100 

Parenti, Giancarlo (2009). „Treating lysosomal storage diseases with pharmacological chaperones: From concept to clinics”. EMBO Molecular Medicine. 1 (5): 268—279. PMC 3378140 

. PMID 20049730. doi:10.1002/emmm.200900036.

Begley, David; Pontikis, Charles; Scarpa, Maurizio (2008). „Lysosomal Storage Diseases and the Blood-Brain Barrier”. Current Pharmaceutical Design. 14 (16): 1566—1580. PMID 18673198. doi:10.2174/138161208784705504.

Front, Sophie; Biela-Banaś, Anna; Burda, Patricie; Ballhausen, Diana; Higaki, Katsumi; Caciotti, Anna; Morrone, Amelia; Charollais-Thoenig, Julie; Gallienne, Estelle; Demotz, Stéphane; Martin, Olivier R. (2017). „(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B”. European Journal of Medicinal Chemistry. 126: 160—170. PMID 27750150. doi:10.1016/j.ejmech.2016.09.095.

Takai, Tomoko; Higaki, Katsumi; Aguilar-Moncayo, Matilde; Mena-Barragán, Teresa; Hirano, Yuki; Yura, Kei; Yu, Liang; Ninomiya, Haruaki; García-Moreno, M. Isabel; Sakakibara, Yasubumi; Ohno, Kousaku; Nanba, Eiji; Ortiz Mellet, Carmen; García Fernández, José M.; Suzuki, Yoshiyuki (2013). „A Bicyclic 1-Deoxygalactonojirimycin Derivative as a Novel Pharmacological Chaperone for GM1 Gangliosidosis”. Molecular Therapy. 21 (3): 526—532. PMC 3589148 

. PMID 23337983. doi:10.1038/mt.2012.263.

Suzuki, Yoshiyuki (2014). „Emerging novel concept of chaperone therapies for protein misfolding diseases”. Proceedings of the Japan Academy, Series B. 90 (5): 145—162. Bibcode:2014PJAB...90..145S. PMC 4104511 

. PMID 24814990. doi:10.2183/pjab.90.145.

Leinekugel, P.; Michel, S.; Conzelmann, E.; Sandhoff, K. (1992). „Quantitative correlation between the residual activity of β-hexosaminidase a and arylsulfatase a and the severity of the resulting lysosomal storage disease”. Human Genetics. 88 (5): 513—523. PMID 1348043. S2CID 473165. doi:10.1007/BF00219337.

Kishnani, Priya; Tarnopolsky, Mark; Roberts, Mark; Sivakumar, Kumarswamy; Dasouki, Majed; Dimachkie, Mazen M.; Finanger, Erika; Goker-Alpan, Ozlem; Guter, Karl A.; Mozaffar, Tahseen; Pervaiz, Muhammad Ali; Laforet, Pascal; Levine, Todd; Adera, Matthews; Lazauskas, Richard; Sitaraman, Sheela; Khanna, Richie; Benjamin, Elfrida; Feng, Jessie; Flanagan, John J.; Barth, Jay; Barlow, Carrolee; Lockhart, David J.; Valenzano, Kenneth J.; Boudes, Pol; Johnson, Franklin K.; Byrne, Barry (2017). „Duvoglustat HCL Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α”. Molecular Therapy. 25 (5): 1199—1208. PMC 5417791 

. PMID 28341561. doi:10.1016/j.ymthe.2017.02.017.

Reynolds, G. D.; Baker, H. J.; Reynolds, R. H. (1978). „Enzyme replacement using liposome carriers in feline GM1 gangliosidosis fibroblasts”. Nature. 275 (5682): 754—755. Bibcode:1978Natur.275..754R. PMID 100709. S2CID 4203289. doi:10.1038/275754a0.

Samoylova, Tatiana I.; Martin, Douglas R.; Morrison, Nancy E.; Hwang, Misako; Cochran, Anna M.; Samoylov, Alexandre M.; Baker, Henry J.; Cox, Nancy R. (2008). „Generation and characterization of recombinant feline β-galactosidase for preclinical enzyme replacement therapy studies in GM1 gangliosidosis”. Metabolic Brain Disease. 23 (2): 161—173. PMID 18421424. S2CID 39684592. doi:10.1007/s11011-008-9086-5.

Condori, Jose; Acosta, Walter; Ayala, Jorge; Katta, Varun; Flory, Ashley; Martin, Reid; Radin, Jonathan; Cramer, Carole L.; Radin, David N. (2016). „Enzyme replacement for GM1-gangliosidosis: Uptake, lysosomal activation, and cellular disease correction using a novel β-galactosidase:RTB lectin fusion”. Molecular Genetics and Metabolism. 117 (2): 199—209. PMC 6116835 

. PMID 26766614. doi:10.1016/j.ymgme.2015.12.002.

Przybilla, Michael J.; Stewart, Christine; Carlson, Timothy W.; Ou, Li; Koniar, Brenda L.; Sidhu, Rohini; Kell, Pamela J.; Jiang, Xuntian; Jarnes, Jeanine R.; O'Sullivan, M. Gerard; Whitley, Chester B. (2021). „Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis”. Molecular Genetics and Metabolism Reports. 27. PMC 8025141 

. PMID 33854948. doi:10.1016/j.ymgmr.2021.100748.

Gupta, Meenakshi; Pandey, Himanshu; Sivakumar, Sri (2017). „Intracellular Delivery of β-Galactosidase Enzyme Using Arginase-Responsive Dextran Sulfate/Poly-<SCP>l</SCP>-arginine Capsule for Lysosomal Storage Disorder”. ACS Omega. 2 (12): 9002—9012. PMC 6044979 

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Chen, Joseph C.; Luu, Amanda R.; Wise, Nathan; Angelis, Rolando De; Agrawal, Vishal; Mangini, Linley; Vincelette, Jon; Handyside, Britta; Sterling, Harry; Lo, Melanie J.; Wong, Hio; Galicia, Nicole; Pacheco, Glenn; Van Vleet, Jeremy; Giaramita, Alexander; Fong, Sylvia; Roy, Sushmita M.; Hague, Chuck; Lawrence, Roger; Bullens, Sherry; Christianson, Terri M.; d'Azzo, Alessandra; Crawford, Brett E.; Bunting, Stuart; Lebowitz, Jonathan H.; Yogalingam, Gouri (2020). „Intracerebroventricular enzyme replacement therapy with β-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice”. Journal of Biological Chemistry. 295 (39): 13532—13555. PMC 7521651 

. PMID 31481471. doi:10.1074/jbc.RA119.009811 

Sawada, Tomo; Tanaka, Akemi; Higaki, Katsumi; Takamura, Ayumi; Nanba, Eiji; Seto, Toshiyuki; Maeda, Mitsuyo; Yamaguchi, Etsuko; Matsuda, Junichiro; Yamano, Tunekazu (2009). „Intracerebral cell transplantation therapy for murine GM1 gangliosidosis”. Brain and Development. 31 (10): 717—724. PMID 19118961. S2CID 19050191. doi:10.1016/j.braindev.2008.11.004.

Shield, J. P. H.; Stone, J.; Steward, C. G. (2005). „Bone marrow transplantation correcting β‐galactosidase activity does not influence neurological outcome in juvenile GM1‐gangliosidosis”. Journal of Inherited Metabolic Disease. 28 (5): 797—798. PMID 16151914. S2CID 20014394. doi:10.1007/s10545-005-0089-7.

Takaura, N.; Yagi, T.; Maeda, M.; Nanba, E.; Oshima, A.; Suzuki, Y.; Yamano, T.; Tanaka, A. (2003). „Attenuation of ganglioside GM1 accumulation in the brain of GM1 gangliosidosis mice by neonatal intravenous gene transfer”. Gene Therapy. 10 (17): 1487—1493. PMID 12900764. S2CID 24786838. doi:10.1038/sj.gt.3302033.

McCurdy, Victoria J.; Johnson, Aime K.; Gray-Edwards, Heather L.; Randle, Ashley N.; Brunson, Brandon L.; Morrison, Nancy E.; Salibi, Nouha; Johnson, Jacob A.; Hwang, Misako; Beyers, Ronald J.; Leroy, Stanley G.; Maitland, Stacy; Denney, Thomas S.; Cox, Nancy R.; Baker, Henry J.; Sena-Esteves, Miguel; Martin, Douglas R. (2014). „Sustained Normalization of Neurological Disease after Intracranial Gene Therapy in a Feline Model”. Science Translational Medicine. 6 (231): 231ra48. PMC 4412602 

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Latour, Yvonne L.; Yoon, Robin; Thomas, Sarah E.; Grant, Christina; Li, Cuiling; Sena-Esteves, Miguel; Allende, Maria L.; Proia, Richard L.; Tifft, Cynthia J. (2019). „Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis”. Molecular Genetics and Metabolism Reports. 21. PMC 6744524 

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harvard.edu

adsabs.harvard.edu

. PMID 31776384. doi:10.1038/s41598-019-53995-5.

. PMID 14676316. doi:10.1073/pnas.2536657100 

. PMID 24814990. doi:10.2183/pjab.90.145.

nih.gov

ncbi.nlm.nih.gov

. PMID 28476546. doi:10.1016/j.ymgme.2017.04.011.

. PMID 31776384. doi:10.1038/s41598-019-53995-5.

. PMID 31704340. doi:10.1016/j.bone.2019.115142.

. PMID 28808666. doi:10.1016/j.omtm.2017.07.005.

. PMID 32071837. doi:10.1002/jmd2.12065.

. PMID 22128166. doi:10.1074/jbc.M111.293795 

Rha, Allisandra K.; Maguire, Anne S.; Martin, Douglas R. (2021). „GM1 Gangliosidosis: Mechanisms and Management”. The Application of Clinical Genetics. 14: 209—233. PMC 8044076 

. PMID 33859490. doi:10.2147/TACG.S206076 