Works matching DE "LYSOSOMAL storage diseases"

Results: 2892

Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5037, doi. 10.3390/ijms26115037

By:

Teker, Betül;
Akan, Gökce;
Kazan, Hasan Hüseyin;
Özgen, Özge;
Tatonyan, Suzin;
Balci, Mehmet Cihan;
Karaca, Meryem;
Kurekci, Fulya;
Yıldız, Edibe Pembegül;
Güngor, Olcay;
Deniz, Adnan;
Gedikbasi, Asuman;
Atalar, Fatmahan;
Gokcay, Gülden Fatma;
Poda, Mehves

Publication type:

Article

Broken Balance: Emerging Cross-Talk Between Proteostasis and Lipostasis in Neurodegenerative Diseases.

Published in:

Cells (2073-4409), 2025, v. 14, n. 11, p. 845, doi. 10.3390/cells14110845

By:

Tittelmeier, Jessica;
Nussbaum-Krammer, Carmen

Publication type:

Article

How to manage hypersensitivity reactions to enzyme replacement therapy in lysosomal storage diseases?

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03844-8

By:

Spataro, Federico;
Solimando, Antonio Giovanni;
Desantis, Vanessa;
Vacca, Angelo;
Di Girolamo, Attilio;
Ria, Roberto

Publication type:

Article

SplenoMegaly study (SMS): exploring the etiologies for "unexplained" splenomegalies in the real world.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03768-3

By:

Denis, Guillaume;
Terriou, Louis;
Sené, Thomas;
Costello, Regis;
Michaud, Martin;
Lagadec, Audrey;
Bauduer, Frédéric;
Sanhes, Laurence;
Rose, Christian;
Urbanski, Geoffrey;
Berger, Marc G.

Publication type:

Article

Late-onset fabry disease presenting with unexplained renal failure, left ventricular hypertrophy, and recurrent syncope: a case report.

Published in:

2025

By:

Ying, Qisu;
Yang, Xiu;
Zhao, Ning;
Wang, Ming;
Wu, Yu;
Shi, Xuexue;
Shen, Jie;
Zhao, Min;
Wang, Wenjun;
Qian, Yingying;
Chen, Qi;
Mao, Yong

Publication type:

Letter

Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches.

Published in:

Mammalian Genome, 2025, v. 36, n. 2, p. 488, doi. 10.1007/s00335-025-10121-3

By:

Marcó, Sara;
Muñoz, Sergio;
Bosch, Fatima;
Jimenez, Veronica

Publication type:

Article

Exploring Multivalent Architectures for Binding and Stabilization of N -Acetylgalactosamine 6-Sulfatase.

Published in:

Molecules, 2025, v. 30, n. 10, p. 2222, doi. 10.3390/molecules30102222

By:

Davighi, Maria Giulia;
Clemente, Francesca;
D'Adamio, Giampiero;
Martínez-Bailén, Macarena;
Morano, Alessio;
Goti, Andrea;
Morrone, Amelia;
Matassini, Camilla;
Cardona, Francesca

Publication type:

Article

Mucopolysaccharidosis Type I and α-Mannosidosis—Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations.

Published in:

2025

By:

Venezia, Marika;
Vinci, Martina;
Colomba, Paolo;
Zizzo, Carmela;
Duro, Giovanni;
Moschetti, Marta

Publication type:

Case Study

c-Abl/TFEB Pathway Activation as a Common Pathogenic Mechanism in Lysosomal Storage Diseases: Therapeutic Potential of c-Abl Inhibitors.

Published in:

Antioxidants, 2025, v. 14, n. 5, p. 611, doi. 10.3390/antiox14050611

By:

Guerra, Miguel V.;
Castro, Juan;
Moreno, Antonio;
Balboa, Elisa;
Marugan, Juan J.;
Alvarez, Alejandra R.;
Zanlungo, Silvana

Publication type:

Article

Yeast-Produced Human Recombinant Lysosomal β-Hexosaminidase Efficiently Rescues GM2 Ganglioside Accumulation in Tay–Sachs Disease.

Published in:

Journal of Personalized Medicine, 2025, v. 15, n. 5, p. 196, doi. 10.3390/jpm15050196

By:

Inci, Orhan Kerim;
Leal, Andrés Felipe;
Ates, Nurselin;
Súarez, Diego A.;
Espejo-Mojica, Angela Johana;
Alméciga-Diaz, Carlos Javier;
Seyrantepe, Volkan

Publication type:

Article

Cardioprotective effects of CoQ10 in pediatric patients with lysosomal storage disorders.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02008-5

By:

Abuzaid, Yasmine;
Suliman, Ghada Abdul Moemn;
Toulba, Osama Abd Rab El Rasool;
Elezz, Ahmed Abd El Basset Abo;
Badraldeen, Alshimaa;
Dawoud, Heba

Publication type:

Article

Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy.

Published in:

Pharmaceutics, 2025, v. 17, n. 5, p. 650, doi. 10.3390/pharmaceutics17050650

By:

Geard, Amy F.;
Massaro, Giulia;
Hughes, Michael P.;
Arbuthnot, Patrick;
Waddington, Simon N.;
Rahim, Ahad A.

Publication type:

Article

Transcriptomic Approach in Understanding Fabry Nephropathy: A Review of the Literature and Proof-of-Concept.

Published in:

Genes, 2025, v. 16, n. 5, p. 601, doi. 10.3390/genes16050601

By:

Breznik, Nika;
Levstek, Tina;
Vujkovac, Bojan;
Cokan Vujkovac, Andreja;
Trebušak Podkrajšek, Katarina

Publication type:

Article

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 195, doi. 10.1007/s10048-005-0011-3

By:

Biancheri, R.;
Rossi, A.;
Verbeek, H.;
Schot, R.;
Corsolini, F.;
Assereto, S.;
Mancini, G.;
Verheijen, F.;
Minetti, C.;
Filocamo, M.

Publication type:

Article

Research highlights.

Published in:

Nature Structural & Molecular Biology, 2008, v. 15, n. 10, p. 1006, doi. 10.1038/nsmb1008-1006

By:

Lall, Sabbi;
Montoya, Michelle;
Chen, Inês

Publication type:

Article

Obstructed umbilical hernia in a child with Hurler's syndrome.

Published in:

Indian Journal of Surgery, 2005, v. 67, n. 1, p. 49

By:

Gopinath, Goutham;
Nagaraj, P.;
Kulkarni, M. L.

Publication type:

Article

X-linked Myopathy with Excessive Autophagy - A Rare Cause of Vacuolar Myopathy in Children.

Published in:

Neurology India, 2022, v. 70, n. 4, p. 1643, doi. 10.4103/0028-3886.355110

By:

Rajeshwari, Madhu;
Dhiman, Neena;
Chakrabarty, Biswaroop;
Gulati, Sheffali;
Shamim, Uzma;
Faruq, Mohammed;
Suri, Vaishali;
Sharma, Mehar Chand

Publication type:

Article

Walking with the ventilator: A rare case of Pompe's disease with a review of literature.

Published in:

2018

By:

Ramrakhiani, Neetu;
Agarwal, Khusboo;
Bansal, Ankit

Publication type:

journal article

Phosphorus Dendrimers for Metal‐Free Ligation: Design of Multivalent Pharmacological Chaperones against Gaucher Disease.

Published in:

Chemistry - A European Journal, 2023, v. 29, n. 53, p. 1, doi. 10.1002/chem.202301210

By:

Tran, My Lan;
Borie‐Guichot, Marc;
Garcia, Virginie;
Oukhrib, Abdelouahd;
Génisson, Yves;
Levade, Thierry;
Ballereau, Stéphanie;
Turrin, Cédric‐Olivier;
Dehoux, Cécile

Publication type:

Article

Potent and Selective Cell‐Active Iminosugar Inhibitors of Human α‐N‐Acetylgalactosaminidase (α‐NAGAL).

Published in:

Chemistry - A European Journal, 2023, v. 29, n. 44, p. 1, doi. 10.1002/chem.202300982

By:

Ashmus, Roger A.;
Wang, Yang;
González‐Cuesta, Manuel;
King, Dustin T.;
Tiet, Ben;
Chen, Xi;
Zhu, Yanping;
Kirk, Bryce;
García Fernandez, José M.;
Ortiz Mellet, Carmen;
Britton, Robert;
Vocadlo, David J.

Publication type:

Article

Lysosomal Targeting of β‐Cyclodextrin.

Published in:

Chemistry - A European Journal, 2023, v. 29, n. 4, p. 1, doi. 10.1002/chem.202203252

By:

Mascherpa, Andrea;
Ishii, Nozomii;
Tayagui, Ayelen;
Liu, Jiang;
Sollogoub, Matthieu;
Fairbanks, Antony J.

Publication type:

Article

Design, Synthesis and Structural Analysis of Glucocerebrosidase Imaging Agents.

Published in:

Chemistry - A European Journal, 2021, v. 27, n. 66, p. 16377, doi. 10.1002/chem.202102359

By:

Rowland, Rhianna J.;
Chen, Yurong;
Breen, Imogen;
Wu, Liang;
Offen, Wendy A.;
Beenakker, Thomas J.;
Su, Qin;
van den Nieuwendijk, Adrianus M. C. H.;
Aerts, Johannes M. F. G.;
Artola, Marta;
Overkleeft, Herman S.;
Davies, Gideon J.

Publication type:

Article

Chemoenzymatic Synthesis of a Phosphorylated Glycoprotein.

Published in:

Angewandte Chemie, 2016, v. 128, n. 16, p. 5142, doi. 10.1002/ange.201600817

By:

Priyanka, Pragya;
Parsons, Thomas B.;
Miller, Antonia;
Platt, Frances M.;
Fairbanks, Antony J.

Publication type:

Article

pH-Responsive Pharmacological Chaperones for Rescuing Mutant Glycosidases.

Published in:

Angewandte Chemie, 2015, v. 127, n. 40, p. 11862, doi. 10.1002/ange.201505147

By:

Mena ‐ Barragán, Teresa;
Narita, Aya;
Matias, Dino;
Tiscornia, Gustavo;
Nanba, Eiji;
Ohno, Kousaku;
Suzuki, Yoshiyuki;
Higaki, Katsumi;
Garcia Fernández, José Manuel;
Ortiz Mellet, Carmen

Publication type:

Article

Chemical Synthesis of Biologically Active Monoglycosylated GM2-Activator Protein Analogue Using N-Sulfanylethylanilide Peptide.

Published in:

Angewandte Chemie, 2013, v. 125, n. 30, p. 8009, doi. 10.1002/ange.201303390

By:

Sato, Kohei;
Shigenaga, Akira;
Kitakaze, Keisuke;
Sakamoto, Ken;
Tsuji, Daisuke;
Itoh, Kohji;
Otaka, Akira

Publication type:

Article

Iron chelation by deferiprone does not rescue the Niemann-Pick Disease Type C1 mouse model.

Published in:

BioMetals, 2020, v. 33, n. 2/3, p. 87, doi. 10.1007/s10534-020-00233-5

By:

Hung, Ya Hui;
Lotan, Amit;
Yeshurun, Shlomo;
Schroeder, Anna;
Bush, Ashley I.

Publication type:

Article

Imaging of changes in copper trafficking and redistribution in a mouse model of Niemann-Pick C disease using positron emission tomography.

Published in:

BioMetals, 2019, v. 32, n. 2, p. 293, doi. 10.1007/s10534-019-00185-5

By:

Baguña Torres, Julia;
Yu, Zilin;
Bordoloi, Jayanta;
Sunassee, Kavitha;
Smith, David;
Smith, Claire;
Chen, Oscar;
Purchase, Rupert;
Tuschl, Karin;
Spencer, John;
Platt, Frances;
Blower, Philip J.

Publication type:

Article

Evaluating metal ion salts as acid hydrolase mimics: metal-assisted hydrolysis of phospholipids at lysosomal pH.

Published in:

BioMetals, 2012, v. 25, n. 6, p. 1207, doi. 10.1007/s10534-012-9583-1

By:

Cepeda, Sarah;
Williams, Dominique;
Grant, Kathryn

Publication type:

Article

Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female (Communicated by Robert Desnick) Online Citation: Human Mutation, Mutation in Brief #643 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 258

By:

Adriana Rodríguez-Marí;
M. José Coll;
Amparo Chabás

Publication type:

Article

Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous femaleCommunicated by Robert DesnickOnline Citation: Human Mutation, Mutation in Brief #643 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 258

By:

Adriana Rodríguez?Marí;
M. José Coll;
Amparo Chabás

Publication type:

Article

Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.

Published in:

Osteoporosis International, 2018, v. 29, n. 8, p. 1833, doi. 10.1007/s00198-018-4555-0

By:

Otaify, G. A.;
Abdel-Hamid, M. S.;
Mehrez, M. I.;
Aboul-Ezz, E.;
Zaki, M. S.;
Aglan, M. S.;
Temtamy, S. A.

Publication type:

Article

Pathologic endothelial response and impaired function of circulating angiogenic cells in patients with Fabry disease.

Published in:

Basic Research in Cardiology, 2013, v. 108, n. 1, p. 1, doi. 10.1007/s00395-012-0311-3

By:

Lorenzen, Johan;
Dietrich, Bernd;
Fiedler, Jan;
Jazbutyte, Virginija;
Fleissner, Felix;
Karpinski, Nicola;
Weidemann, Frank;
Wanner, Christoph;
Asan, Esther;
Caprio, Massimiliano;
Ertl, Georg;
Bauersachs, Johann;
Thum, Thomas

Publication type:

Article

Catabolism of Cu and Cy5.5-labeled human serum albumin in a tumor xenograft model.

Published in:

Amino Acids, 2016, v. 48, n. 7, p. 1667, doi. 10.1007/s00726-016-2227-y

By:

Kang, Choong;
Kim, Hyunjung;
Koo, Hyun-Jung;
Park, Jin;
An, Gwang;
Choi, Joon;
Lee, Kyung-Han;
Kim, Byung-Tae;
Choe, Yearn

Publication type:

Article

General Anesthesia Management for Adult Mucopolysaccharidosis Patients Undergoing Major Spine Surgery.

Published in:

2019

By:

Tsuchiya, Masahiko;
Terai, Hidetomi;
Mizutani, Koh;
Funai, Yusuke;
Tanaka, Katsuaki;
Yamada, Tokuhiro;
Mori, Takashi;
Nishikawa, Kiyonobu

Publication type:

Case Study

Evaluation of artificial signal peptides for secretion of two lysosomal enzymes in CHO cells.

Published in:

Biochemical Journal, 2021, v. 478, n. 12, p. 2309, doi. 10.1042/BCJ20210015

By:

Kai-Wen Cheng;
Feng Wang;
Lopez, George A.;
Singamsetty, Srikanth;
Wood, Jill;
Dickson, Patricia I.;
Tsui-Fen Chou

Publication type:

Article

Lysosomal sulfatases: a growing family.

Published in:

Biochemical Journal, 2020, v. 477, n. 20, p. 3963, doi. 10.1042/BCJ20200586

By:

Lübke, Torben;
Damme, Markus

Publication type:

Article

An Overview on Audio logical Abnormalities in Gaucher's Disease.

Published in:

Zagazig University Medical Journal, 2025, v. 31, n. 4, p. 1470, doi. 10.21608/ZUMJ.2025.355785.3814

By:

Elsafy, Osama Roshdy;
Ahmed Gad, Nahla Hassan;
Abdelgawad, Raghda Mamdouh;
Zakaria, Marwa

Publication type:

Article

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.

Published in:

2024

By:

Diaz-Ordoñez, Lorena;
Duque-Cordoba, Paola Andrea;
Nieva-Posso, Daniel Andrés;
Saldarriaga, Wilmar;
Gutierrez-Medina, Juan David;
Pachajoa, Harry

Publication type:

Literature Review

Two Cases of Niemann-Pick Disease Type C Presenting with Neonatal Cholestasis: Case Reports.

Published in:

2023

By:

Bhanu, Yaseena;
Kasula, Linga Reddy;
Kotha, Rakesh;
Madireddy, Alimelu

Publication type:

Case Study

Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 17, doi. 10.3390/ijns11010017

By:

de Castro Lopez, Maria Jose;
White, Fiona J.;
Holmes, Victoria;
Roberts, Jane;
Wu, Teresa H. Y.;
Cooper, James A.;
Church, Heather J.;
Petts, Gemma;
Wynn, Robert F.;
Jones, Simon A.;
Ghosh, Arunabha

Publication type:

Article

A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 71, doi. 10.3390/ijns10040071

By:

Ayodele, Olulade;
Fertek, Daniel;
Evuarherhe, Obaro;
Siffel, Csaba;
Audi, Jennifer;
Yee, Karen S.;
Burton, Barbara K.

Publication type:

Article

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 3, doi. 10.3390/ijns10010003

By:

Gragnaniello, Vincenza;
Cazzorla, Chiara;
Gueraldi, Daniela;
Puma, Andrea;
Loro, Christian;
Porcù, Elena;
Stornaiuolo, Maria;
Miglioranza, Paolo;
Salviati, Leonardo;
Burlina, Alessandro P.;
Burlina, Alberto B.

Publication type:

Article

Multiplexing Iduronate-2-Sulphatase (MPS-II) into a 7-Plex Lysosomal Storage Disorder MS/MS Assay Using Cold-Induced Phase Separation.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 32, doi. 10.3390/ijns9020032

By:

Courtney, Elya;
Pickens, C. Austin;
Cuthbert, Carla;
Petritis, Konstantinos

Publication type:

Article

Comment on Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8 , 20.

Published in:

2023

By:

Maase, Rose;
Jansen, Marleen E.;
Heijnen, Marie-Louise;
Dekkers, Eugenie

Publication type:

Letter

Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 59, doi. 10.3390/ijns8040059

By:

Boychuk, Natalie A.;
Mulrooney, Niamh S.;
Kelly, Nicole R.;
Goldenberg, Aaron J.;
Silver, Ellen J.;
Wasserstein, Melissa P.

Publication type:

Article

Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 20, doi. 10.3390/ijns8010020

By:

Jones, Simon A.;
Cheillan, David;
Chakrapani, Anupam;
Church, Heather J.;
Heales, Simon;
Wu, Teresa H. Y.;
Morton, Georgina;
Roberts, Patricia;
Sluys, Erica F.;
Burlina, Alberto

Publication type:

Article

Determination of Gb3 and Lyso-Gb3 in Fabry Disease-Affected Patients by LC-MRM/MS.

Published in:

Separations (2297-8739), 2024, v. 11, n. 8, p. 239, doi. 10.3390/separations11080239

By:

Battaglia, Gennaro;
Pinto, Gabriella;
Fontanarosa, Carolina;
Spinelli, Michele;
Illiano, Anna;
Serpico, Stefania;
Chiariotti, Lorenzo;
Risoluti, Roberta;
Materazzi, Stefano;
Amoresano, Angela

Publication type:

Article

Cardiac affection in lysosomal storage disorders and effect of enzyme replacement therapy.

Published in:

Alexandria Journal of Pediatrics, 2024, v. 37, n. 1, p. 29, doi. 10.4103/ajop.ajop_6_24

By:

Mokhtar, Wesam A.;
Omar, Nariman F.;
Niazy, Asmaa M.M.;
Ali, Alshymaa A.

Publication type:

Article

Immunoglobulin-G subclass pattern among children with mucopolysaccharidosis attending the genetic clinic of Alexandria University Children's Hospital.

Published in:

Alexandria Journal of Pediatrics, 2022, v. 35, n. 1, p. 1, doi. 10.4103/ajop.ajop_11_22

By:

ElDeriny, Ghada F.;
Marzouk, Iman M.;
Elbanna, Ola A.

Publication type:

Article

Redefining GBA gene structure unveils the ability of Cap-independent, IRES-dependent gene regulation.

Published in:

Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03577-5

By:

Miyoshi, Keiko;
Hagita, Hiroko;
Horiguchi, Taigo;
Tanimura, Ayako;
Noma, Takafumi

Publication type:

Article