Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).
International Journal Of Molecular Sciences
Siddiqui, Amna A; Dundar, Halil H; Sharma, Jyoti J; Kaczmarczyk, Aneta A; Echols, Josh J; Dai, Yanying Y; Sun, Chuanxi Richard CR; Du, Ming M; Liu, Zhong Z; Zhao, Rui R; Wood, Tim T; Sanders, Shalisa S; Rasmussen, Lynn L; Bostwick, James Robert JR; Augelli-Szafran, Corinne C; Suto, Mark M; Rowe, Steven M SM; Bedwell, David M DM; Keeling, Kim M KM
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: IDUA: 1206G>A; Trp402Ter
Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes.
Genes
Cyske, Zuzanna Z; Gaffke, Lidia L; Pierzynowska, Karolina K; Węgrzyn, Grzegorz G
Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis.
Frontiers In Cardiovascular Medicine
Stepien, Karolina M KM; Bentley, Andrew A; Chen, Cliff C; Dhemech, M Wahab MW; Gee, Edward E; Orton, Peter P; Pringle, Catherine C; Rajan, Jonathan J; Saxena, Ankur A; Tol, Govind G; Gadepalli, Chaitanya C
In silico analysis of potential off-target sites to gene editing for Mucopolysaccharidosis type I using the CRISPR/Cas9 system: Implications for population-specific treatments.
Plos One
Carneiro, Paola P; de Freitas, Martiela Vaz MV; Matte, Ursula U
In silico analysis of potential off-target sites to gene editing for Mucopolysaccharidosis type I using the CRISPR/Cas9 system: Implications for population-specific treatments.
Plos One
Carneiro, Paola P; de Freitas, Martiela Vaz MV; Matte, Ursula U
Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies.
Case Reports In Ophthalmological Medicine
Magalhães, Augusto A; Cunha, Ana Maria AM; Vilares-Morgado, Rodrigo R; Leão-Teles, Elisa E; Rodrigues, Esmeralda E; Falcão, Manuel M; Carneiro, Ângela Â; Breda, Jorge J; Falcão-Reis, Fernando F
In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease.
Nature Communications
Bose, Sourav K SK; White, Brandon M BM; Kashyap, Meghana V MV; Dave, Apeksha A; De Bie, Felix R FR; Li, Haiying H; Singh, Kshitiz K; Menon, Pallavi P; Wang, Tiankun T; Teerdhala, Shiva S; Swaminathan, Vishal V; Hartman, Heather A HA; Jayachandran, Sowmya S; Chandrasekaran, Prashant P; Musunuru, Kiran K; Jain, Rajan R; Frank, David B DB; Zoltick, Philip P; Peranteau, William H WH
Inhibition of iduronic acid biosynthesis by ebselen reduces glycosaminoglycan accumulation in mucopolysaccharidosis type I fibroblasts.
Glycobiology
Maccarana, Marco M; Tykesson, Emil E; Pera, Edgar M EM; Gouignard, Nadège N; Fang, Jianping J; Malmström, Anders A; Ghiselli, Giancarlo G; Li, Jin-Ping JP
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Proteasome Composition and Activity Changes in Cultured Fibroblasts Derived From Mucopolysaccharidoses Patients and Their Modulation by Genistein.
Frontiers In Cell And Developmental Biology
Pierzynowska, Karolina K; Gaffke, Lidia L; Jankowska, Elżbieta E; Rintz, Estera E; Witkowska, Julia J; Wieczerzak, Ewa E; Podlacha, Magdalena M; Węgrzyn, Grzegorz G
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02
Variant appearance in text: IDUA: 1206G>A; Trp402Ter
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
Journal Of Inherited Metabolic Disease
Oussoren, Esmee E; Mathijssen, Irene M J IMJ; Wagenmakers, Margreet M; Verdijk, Rob M RM; Bredero-Boelhouwer, Hansje H HH; van Veelen-Vincent, Marie-Lise C MC; van der Meijden, Jan C JC; van den Hout, Johanna M P JMP; Ruijter, George J G GJG; van der Ploeg, Ans T AT; Langeveld, Mirjam M
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial.
Orphanet Journal Of Rare Diseases
Giugliani, Roberto R; Giugliani, Luciana L; de Oliveira Poswar, Fabiano F; Donis, Karina Carvalho KC; Corte, Amauri Dalla AD; Schmidt, Mathias M; Boado, Ruben J RJ; Nestrasil, Igor I; Nguyen, Carol C; Chen, Steven S; Pardridge, William M WM
Mechanism of Nonsense-Mediated mRNA Decay Stimulation by Splicing Factor SRSF1.
Cell Reports
Aznarez, Isabel I; Nomakuchi, Tomoki T TT; Tetenbaum-Novatt, Jaclyn J; Rahman, Mohammad Alinoor MA; Fregoso, Oliver O; Rees, Holly H; Krainer, Adrian R AR
Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis.
Human Molecular Genetics
Hinderer, Christian C; Katz, Nathan N; Louboutin, Jean-Pierre JP; Bell, Peter P; Tolar, Jakub J; Orchard, Paul J PJ; Lund, Troy C TC; Nayal, Mohamad M; Weng, Liwei L; Mesaros, Clementina C; de Souza, Carolina F M CFM; Dalla Corte, Amauri A; Giugliani, Roberto R; Wilson, James M JM
Characterization of the MPS I-H knock-in mouse reveals increased femoral biomechanical integrity with compromised material strength and altered bone geometry.
Molecular Genetics And Metabolism Reports
Oestreich, Arin K AK; Garcia, Mekka R MR; Yao, Xiaomei X; Pfeiffer, Ferris M FM; Nobakhti, Sabah S; Shefelbine, Sandra J SJ; Wang, Yong Y; Brodeur, Amanda C AC; Phillips, Charlotte L CL
Khan, Shaukat A SA; Peracha, Hira H; Ballhausen, Diana D; Wiesbauer, Alfred A; Rohrbach, Marianne M; Gautschi, Matthias M; Mason, Robert W RW; Giugliani, Roberto R; Suzuki, Yasuyuki Y; Orii, Kenji E KE; Orii, Tadao T; Tomatsu, Shunji S
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.
Molecular Genetics And Metabolism Reports
Pineda, Tatiana T; Marie, Sulie S; Gonzalez, Janneth J; García, Ana L AL; Acosta, Amparo A; Morales, Manuel M; Correa, Luz N LN; Vivas, Ricardo R; Escobar, Xiomara X; Protzel, Ana A; Barba, Maria M; Ospina, Sandra S; Corredor, Clara C; Mansilla, Sandra S; Velasco, Harvy M HM
Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.
Bmc Medical Genetics
Kwak, Min Jung MJ; Huh, Rimm R; Kim, Jinsup J; Park, Hyung-Doo HD; Cho, Sung Yoon SY; Jin, Dong-Kyu DK
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.
Jimd Reports
Kunin-Batson, A S AS; Shapiro, E G EG; Rudser, K D KD; Lavery, C A CA; Bjoraker, K J KJ; Jones, S A SA; Wynn, R F RF; Vellodi, A A; Tolar, J J; Orchard, P J PJ; Wraith, J E JE
Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
Molecular Genetics And Metabolism
Dickson, Patricia I PI; Kaitila, Ilkka I; Harmatz, Paul P; Mlikotic, Anton A; Chen, Agnes H AH; Victoroff, Alla A; Passage, Merry B MB; Madden, Jacqueline J; Le, Steven Q SQ; Naylor, David E DE; ,
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.
Molecular Genetics And Metabolism
Shapiro, Elsa G EG; Nestrasil, Igor I; Rudser, Kyle K; Delaney, Kathleen K; Kovac, Victor V; Ahmed, Alia A; Yund, Brianna B; Orchard, Paul J PJ; Eisengart, Julie J; Niklason, Gregory R GR; Raiman, Julian J; Mamak, Eva E; Cowan, Morton J MJ; Bailey-Olson, Mara M; Harmatz, Paul P; Shankar, Suma P SP; Cagle, Stephanie S; Ali, Nadia N; Steiner, Robert D RD; Wozniak, Jeffrey J; Lim, Kelvin O KO; Whitley, Chester B CB