Works about LYSOSOMAL storage diseases

Results: 2927

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08482-1

By:

Greene, Sunny;
Talbert, Mackenzie L.;
Frost, F. Graeme;
Zerfas, Patricia M.;
Springer, Danielle;
Noguchi, Audrey;
Morimoto, Marie;
Maynard, Dawn;
Garrett, Lisa;
Elliot, Gene;
Traver, Maria;
Yarnell, David;
Leoyklang, Petcharat;
Burke, John D.;
Nicoli, Elena-Raluca;
Gahl, William A.;
Introne, Wendy J.;
Malicdan, May Christine V.

Publication type:

Article

TFEB overexpression alleviates autophagy-lysosomal deficits caused by progranulin insufficiency.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-12268-0

By:

Nader, Wren O.;
Brown, Kaylan S.;
Boyle, Nicholas R.;
Kaplelach, Azariah K.;
Abdelaziz, Shaimaa M.;
Davis, Skylar E.;
Aljabi, Qays;
Hakim, Ahmad R.;
Davidson, Amelia G.;
Vollmer, Giacynta A.;
Wright, Leah C.;
Echols, J. Bailey;
Saad, Joelle;
Pena, Nicholas S.;
Arrant, Andrew E.

Publication type:

Article

Loss of the lysosomal lipid flippase ATP10B leads to progressive dopaminergic neurodegeneration and parkinsonian motor deficits.

Published in:

Acta Neuropathologica, 2025, v. 150, n. 1, p. 1, doi. 10.1007/s00401-025-02908-0

By:

Sanchiz-Calvo, María;
Coccia, Elena;
Cawthorne, Christopher;
Morrone Parfitt, Gustavo;
Torre-Muruzabal, Teresa;
Tsafaras, George;
Van Laere, Koen;
Cabezudo, Diego;
Cascalho, Ana;
Van den Haute, Chris;
Vangheluwe, Peter;
Blanchard, Joel;
Bentea, Eduard;
Baekelandt, Veerle

Publication type:

Article

Assessing the pathogenicity of missense single nucleotide polymorphisms in the human FUCA1 gene using multiple bioinformatics tools.

Published in:

International Journal of Medical Biochemistry, 2025, v. 8, n. 3, p. 212, doi. 10.14744/ijmb.2025.02328

By:

Fahim, Israa;
Idris, Hanin;
Alyousef, Rama Almohamad;
Joujeh, Dima

Publication type:

Article

Multidisciplinary Care Model as a Center of Excellence for Fabry Disease: A Practical Guide to Diagnosis and Management by Clinical Specialty in South Korea.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 13, p. 4400, doi. 10.3390/jcm14134400

By:

Lee, Soo Yong;
Kim, Il Young;
Ahn, Sung-Ho;
Kim, Su Jin;
Lee, Hyun-Min;
Lee, Ji Eun;
Byeon, Gyeong-Jo;
Ko, Hyun-Chang;
Lee, Hyun Jung;
Choi, Songhwa;
Cheon, Chong Kun

Publication type:

Article

Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking into Cell-Free Therapies for Bone-Affected Lysosomal Storage Disorders.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 13, p. 6448, doi. 10.3390/ijms26136448

By:

Leal, Andrés Felipe;
Pachajoa, Harry;
Tomatsu, Shunji

Publication type:

Article

Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 13, p. 6275, doi. 10.3390/ijms26136275

By:

Terawaki, Seigo;
Nakanishi, Hiroki;
Shibuya, Toko;
Sakai, Norio;
Otomo, Takanobu

Publication type:

Article

Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03851-9

By:

Makhamreh, Mona M.;
Shivashankar, Kavya;
Rice, Stephanie M.;
Wodoslawsky, Sascha;
Grant, Christina;
McLaren Jr, Rodney;
Berger, Seth I.;
Al-Kouatly, Huda B.

Publication type:

Article

The ESCRT protein CHMP5 restricts bone formation by controlling endolysosome-mitochondrion-mediated cell senescence.

Published in:

eLife, 2025, p. 1, doi. 10.7554/eLife.101984

By:

Fan Zhang;
Yuan Wang;
Luyang Zhang;
Chunjie Wang;
Deping Chen;
Haibo Liu;
Ren Xu;
Haynes, Cole M.;
Jae-Hyuck Shim;
Xianpeng Ge

Publication type:

Article

ESCRT III Regulates Lysosomal Perinuclear Clustering by Inhibiting Kinesin 1 Leading to Agnps Cytotoxicity in Human Cells.

Published in:

Advanced Materials Interfaces, 2025, v. 12, n. 10, p. 1, doi. 10.1002/admi.202400944

By:

Liu, Tiantian;
Xie, Aiguo;
Xing, Chao;
He, RuiZhe;
Ni, Wei;
Peng, Yinbo;
Xu, Peng;
Fang, Yong

Publication type:

Article

Clinical perspectives on myopathic complications in nephropathic cystinosis.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00092-z

By:

Sadjadi, Reza;
Ghossein, Cybele;
Elenberg, Ewa

Publication type:

Article

CLN3 disease disrupts very early postnatal hippocampal maturation.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-02010-1

By:

Singh, Jeet B.;
Burris, Devin M.;
Bhuyan, Sangeetha;
Thurston, Tegan;
Oschmann, Anna;
Jankowski, Connor;
Lu, Wenyun;
Rabinowitz, Joshua D.;
Ahrens-Nicklas, Rebecca C.

Publication type:

Article

Whole‐Cell Lysosome SMLM Imaging as Indicators for Functional Diagnostics with a Low‐Phototoxic Spontaneously Blinking Probe.

Published in:

Angewandte Chemie, 2025, v. 137, n. 28, p. 1, doi. 10.1002/ange.202503177

By:

Qiao, Qinglong;
Song, Aoxuan;
Jiang, Guanyu;
Zhou, Yuxin;
Ruan, Yiyan;
Jia, Wenhao;
Liu, Xiaogang;
Xu, Zhaochao

Publication type:

Article

Childhood to adult transition in youth patients with lysosomal acid lipase deficiency: 43 recommendations from experts.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03852-8

By:

Hermida-Ameijeiras, Alvaro;
Blasco-Alonso, Javier;
Carrillo-Linares, Juan Luis;
González-Dieguez, María Luisa;
Pastor-Rosado, José;
Morales-Conejo, Montserrat;
Bellusci, Marcello;
Mercadal-Hally, Maria

Publication type:

Article

Competent expression of effective and long-acting human α-Gal A-Fc fusion protein in the milk of transgenic mice.

Published in:

Transgenic Research, 2025, v. 34, n. 1, p. 1, doi. 10.1007/s11248-025-00452-x

By:

Yuan, Mengke;
Yang, Lan;
Li, Chunyang;
Wu, Zhiqiang;
Liu, Zhipeng;
Du, Tianfei;
Rong, Xinzong;
Cong, Cong;
Zhang, Yongxia;
Yu, Xiaoping;
Gao, Yali;
Chen, Zhengli;
Liu, Lanjun;
Ge, Yonghong

Publication type:

Article

Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 48, doi. 10.3390/ijns11020048

By:

Vermette, Lacey;
Washburn, Jon;
Klug, Tracy

Publication type:

Article

Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 44, doi. 10.3390/ijns11020044

By:

Dantonio, Paul;
Klug, Tracy;
Yazdanpanah, Golriz;
Haynes, Christopher;
Zhou, Hui;
Hopkins, Patrick;
Vogt, Robert;
Lee, Rachel;
Cuthbert, Carla;
Petritis, Konstantinos

Publication type:

Article

Newborn Screening for Gaucher Disease: The New Jersey Experience.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 34, doi. 10.3390/ijns11020034

By:

Menello, Caitlin;
Pressley, Shaney;
Steffensen, Madeline;
Schmidt, Sarah;
Pedro, Helio;
Jethva, Reena;
Valdez-Gonzalez, Karen;
Adams, Darius J.;
Gupta, Punita;
King, Lorien Tambini;
Velinov, Milen;
Anderson, Sharon;
Bizargity, Peyman;
Pletcher, Beth;
Tuite, Allysa;
Kresge, Christina;
Day-Salvatore, Debra Lynn;
Kuehl, Ryan;
Ficicioglu, Can

Publication type:

Article

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 30, doi. 10.3390/ijns11020030

By:

Malvagia, Sabrina;
Bettiol, Alessandra;
Porcaro, Margherita;
Mura, Massimo;
Funghini, Silvia;
Ombrone, Daniela;
Forni, Giulia;
Scolamiero, Emanuela;
Coppi, Filippo;
Damiano, Roberta;
Cereda, Cristina;
Simonetti, Simonetta;
Lonetti, Annalisa;
Daniotti, Marta;
Caciotti, Anna;
Morrone, Amelia;
Calbi, Valeria;
Fumagalli, Francesca;
Aiuti, Alessandro;
Procopio, Elena

Publication type:

Article

The Hidden Burden: Gastrointestinal Involvement in Lysosomal Storage Disorders.

Published in:

Metabolites (2218-1989), 2025, v. 15, n. 6, p. 361, doi. 10.3390/metabo15060361

By:

Gragnaniello, Vincenza;
Cazzorla, Chiara;
Gueraldi, Daniela;
Puma, Andrea;
Loro, Christian;
Burlina, Alberto B.

Publication type:

Article

Mutation-Specific Cardiomyocyte Lines from Patients with Fabry Disease: A Sustainable In Vitro Model to Investigate Structure, Function, and Disease Mechanisms †.

Published in:

International Journal of Translational Medicine, 2025, v. 5, n. 2, p. 15, doi. 10.3390/ijtm5020015

By:

Nicholls, Kathleen;
Wise, Andrea;
Elliot, David;
ter Huurne, Menno;
Fuller, Maria;
Ricardo, Sharon

Publication type:

Article

Prognostic Modeling of Deleterious IDUA Mutations L238Q and P385R in Hurler Syndrome Through Molecular Dynamics Simulations.

Published in:

Pharmaceuticals (14248247), 2025, v. 18, n. 6, p. 922, doi. 10.3390/ph18060922

By:

Priya Nanda Kumar, Madhana;
Dharsini Selvamani, Esakki;
Pai Panemangalore, Archana;
Kumar Nanda Kumar, Sidharth;
Vasudevan, Vasundra;
Ramasamy, Magesh

Publication type:

Article

Perioperative management of patients with Mucolipidosis II and III: Lessons from a case series.

Published in:

Pediatric Anesthesia, 2021, v. 31, n. 3, p. 260, doi. 10.1111/pan.14090

By:

Scott‐Warren, Victoria Louise;
Walker, Rob

Publication type:

Article

Anesthetic management of pediatric patients with Niemann‐Pick disease type C for intrathecal 2‐hydroxypropyl‐β‐cyclodextrin injection.

Published in:

Pediatric Anesthesia, 2020, v. 30, n. 7, p. 766, doi. 10.1111/pan.13902

By:

Ulloa, Morgan L.;
Froyshteter, Alexander B.;
Kret, Lauren N.;
Chang, Denise P.;
Sarah, Gabriel E.;
McCarthy, Robert J.;
Barnes, Steve D.;
Berry‐Kravis, Elizabeth M.;
Veyckemans, Francis

Publication type:

Article

Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: A retrospective cohort study.

Published in:

Pediatric Anesthesia, 2020, v. 30, n. 2, p. 181, doi. 10.1111/pan.13787

By:

Dohrmann, Thorsten;
Muschol, Nicole M.;
Sehner, Susanne;
Punke, Mark A.;
Haas, Sebastian A.;
Roeher, Katharina;
Breyer, Sandra;
Koehn, Anja F.;
Ullrich, Kurt;
Zöllner, Christian;
Petzoldt, Martin;
Veyckemans, Francis

Publication type:

Article

Mucopolysaccharidosis type I (Hurler syndrome) and anesthesia: the impact of bone marrow transplantation, enzyme replacement therapy, and fiberoptic intubation on airway management.

Published in:

Pediatric Anesthesia, 2012, v. 22, n. 8, p. 745, doi. 10.1111/j.1460-9592.2012.03897.x

By:

Kirkpatrick, Katherine;
Ellwood, James;
Walker, Robert W. M.

Publication type:

Article

Synaptotagmin VII Restricts Fusion Pore Expansion during Lysosomal Exocytosis.

Published in:

PLoS Biology, 2004, v. 2, n. 8, p. 0, doi. 10.1371/journal.pbio.0020233

By:

Jaiswal, Jyoti K.;
Chakrabarti, Sabyasachi;
Andrews, Norma W.;
Simoni, Sanford M.

Publication type:

Article

Gaucher disease in Mexico. Epidemiologic overview.

Published in:

Acta Pediatrica de Mexico, 2011, v. 32, n. 5, p. 277

By:

Carbajal-Rodriguez, Luis;
Voirol-Garcia, Aitana;
Mora-Magaña, Ignacio;
Rodriguez-Herrera, Raymundo;
Zarco-Roman, Jorge

Publication type:

Article

Insomnio y anormalidades conductuales como manifestaciones iniciales en una paciente con síndrome de Sanilippo.

Published in:

Acta Pediatrica de Mexico, 2011, v. 32, n. 1, p. 15

By:

Esmer-Sánchez, Carmen;
Salazar-Martínez, Abel;
Hernández-Mondragón, Héctor;
Bravo-Oro, Antonio

Publication type:

Article

Progresión temprana de lactante con enfermedad de Krabbe.

Published in:

Revista Mexicana de Pediatria, 2024, v. 91, n. 4, p. 149, doi. 10.35366/119693

By:

Cubides-Villamil, Paola Andrea;
Salim-Torres, Yamil Yasser;
Cabarcas-Castro, Lissete;
Ortiz-Corredor, Fernando;
Espinosa-García, Eugenia

Publication type:

Article

Leucodistrofia metacromática infantil con variante heterocigota compuesta en el gen ARSA.

Published in:

Revista Mexicana de Pediatria, 2024, v. 91, n. 3, p. 105, doi. 10.35366/119375

By:

Cabarcas-Castro, Lissete;
Luis Ramón-Gómez, Jorge;
Espinosa-García, Eugenia;
Suárez-Obando, Fernando;
Santamaría-Castiblanco, Natalia;
Martínez-Córdoba, Natalia;
Lince-Rivera, Isabella

Publication type:

Article

Deficiencia de lipasa ácida lisosomal. Reporte de dos casos.

Published in:

Revista Mexicana de Pediatria, 2016, v. 83, n. 2, p. 49

By:

Carbajal-Rodríguez, Luis

Publication type:

Article

Enfoque simplificado para el diagnóstico de enfermedades lisosomales en niños.

Published in:

Revista Mexicana de Pediatria, 2014, v. 81, n. 4, p. 143

By:

Carbajal Rodríguez, Luis;
Rodríguez Herrera, Raymundo;
Zarco Román, Jorge;
Perea Martínez, Arturo;
Copto García, Alfonso

Publication type:

Article

Clinical features of fetal hydrothorax associated with mucopolysaccharidosis‐VII.

Published in:

Journal of Obstetrics & Gynaecology Research, 2023, v. 49, n. 10, p. 2538, doi. 10.1111/jog.15744

By:

Kamihara, Yuki;
Ozawa, Katsusuke;
Muromoto, Jin;
Sugibayashi, Rika;
Wada, Seiji;
Shibata, Yuka;
Hori, Asuka;
Hasegawa, Fuyuki;
Hata, Kenichiro;
Sago, Haruhiko

Publication type:

Article

Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease).

Published in:

Journal of Obstetrics & Gynaecology Research, 2016, v. 42, n. 10, p. 1263, doi. 10.1111/jog.13055

By:

Rohman, Philippa J.;
Scott, Elaine;
Richfield, Linda;
Ramaswami, Uma;
Hughes, Derralynn A.

Publication type:

Article

TERT enhances the survival rate of human fibroblasts under endoplasmic reticulum, Golgi apparatus, and lysosomal stresses.

Published in:

Biotechnology Letters, 2018, v. 40, n. 6, p. 915, doi. 10.1007/s10529-018-2544-1

By:

Abd El-Hafeez, Amer Ali;
Hosoi, Toru;
Nakatsu, Kanako;
Thon, Mina;
Shimamoto, Akira;
Tahara, Hidetoshi;
Ozawa, Koichiro

Publication type:

Article

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.

Published in:

Clinical Rheumatology, 2014, v. 33, n. 5, p. 725, doi. 10.1007/s10067-013-2423-z

By:

Jurecka, Agnieszka;
Zakharova, Ekaterina;
Malinova, Vera;
Voskoboeva, Elena;
Tylki-Szymańska, Anna

Publication type:

Article

Awareness of Fabry disease among rheumatologists-current status and perspectives.

Published in:

Clinical Rheumatology, 2011, v. 30, n. 4, p. 467, doi. 10.1007/s10067-010-1445-z

By:

Cimaz, Rolando;
Guillaume, Severine;
Hilz, Max;
Horneff, Gerd;
Manger, Bernhard;
Thorne, J.;
Torvin Møller, Anette;
Wulffraat, Nico;
Roth, Johannes

Publication type:

Article

Legg–Perthes disease-like joint involvement and diagnosis delay in Scheie syndrome: a case report.

Published in:

2007

By:

Melikoglu, Meltem Alkan;
Kocabas, Hilal;
Sezer, Ilhan;
Çay, Hasan Fatih;
Cassidy, Aysegul Guller;
Balci, Nilufer

Publication type:

Report

Rheumatologic aspects of lysosomal storage diseases.

Published in:

Clinical Rheumatology, 2007, v. 26, n. 3, p. 335, doi. 10.1007/s10067-006-0299-x

By:

Manger, Bernhard;
Mengel, Eugen;
Schaefer, Roland

Publication type:

Article

Increased cerebellar volume in the early stage of fucosidosis: a case control study.

Published in:

Neuroradiology, 2011, v. 53, n. 7, p. 509, doi. 10.1007/s00234-011-0855-1

By:

Kau, Thomas;
Karlo, Christoph;
Güngör, Tayfun;
Prietsch, Viola;
Kellenberger, Christian;
Scheer, Ianina;
Boltshauser, Eugen

Publication type:

Article

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.

Published in:

Neuroradiology, 2007, v. 49, n. 7, p. 571, doi. 10.1007/s00234-007-0220-6

By:

Autti, Taina;
Joensuu, Raimo;
Åberg, Laura

Publication type:

Article

Cerebellar white matter involvement in Salla disease.

Published in:

Neuroradiology, 2004, v. 46, n. 7, p. 587, doi. 10.1007/s00234-004-1166-6

By:

Biancheri, Roberta;
Rossi, A.;
Mancini, M.G.;
Minetti, C.

Publication type:

Article

Screening for Fabry disease in patients with hypertrophic cardiomyopathy using cardiac magnetic resonance imaging.

Published in:

European Radiology, 2025, v. 35, n. 5, p. 2888, doi. 10.1007/s00330-024-11203-7

By:

Li, Jialin;
Pu, Lutong;
Xu, Ziqian;
Wan, Ke;
Xu, Yuanwei;
Wang, Jie;
Han, Yuchi;
Chen, Yucheng

Publication type:

Article

Bone marrow involvement in Gaucher disease at MRI : what long-term evolution can we expect under enzyme replacement therapy?

Published in:

European Radiology, 2015, v. 25, n. 10, p. 2969, doi. 10.1007/s00330-015-3715-2

By:

Fedida, Benjamin;
Touraine, Sébastien;
Stirnemann, Jerôme;
Belmatoug, Nadia;
Laredo, Jean-Denis;
Petrover, David

Publication type:

Article

Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase Correct Enzyme Deficiency in Human Mucopolysaccharidosis Type I Cells.

Published in:

Cells Tissues Organs, 2012, v. 195, n. 4, p. 323, doi. 10.1159/000327532

By:

Baldo, Guilherme;
Quoos Mayer, Fabiana;
Burin, Maira;
Carrillo-Farga, Joaquín;
Matte, Ursula;
Giugliani, Roberto

Publication type:

Article

Niemann-Pick Disease With Bilateral Adrenal Mass.

Published in:

JCEM Case Reports, 2023, v. 1, n. 6, p. 1, doi. 10.1210/jcemcr/luad152

By:

Long Mohd Noor Affendi, Sharifah Noor Adrilla binti;
Tong, Chin Voon;
Nordin, Nurul Dayana binti

Publication type:

Article

Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.

Published in:

Glycobiology, 2021, v. 31, n. 11, p. 1416, doi. 10.1093/glycob/cwab046

By:

Reza, Safoura;
Ugorski, Maciej;
Suchański, Jarosław

Publication type:

Article

Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease.

Published in:

Glycobiology, 2012, v. 22, n. 5, p. 725, doi. 10.1093/glycob/cws050

By:

Hůlková, Helena;
Ledvinová, Jana;
Kuchař, Ladislav;
Šmíd, František;
Honzíková, Jitka;
Elleder, Milan

Publication type:

Article

A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates.

Published in:

Glycobiology, 2010, v. 20, n. 3, p. 356, doi. 10.1093/glycob/cwp183

By:

Tropak, Michael B.;
WBukovac, Scott;
Rigat, Brigitte A.;
Yonekawa, Sayuri;
Wakarchuk, Warren;
Mahuran, Don J.

Publication type:

Article