Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency.

Autor: Pham V; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Tricoli L; Department of Pediatrics, Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Hong X; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wongkittichote P; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand., Castruccio Castracani C; Department of Pediatrics, Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Guerra A; Department of Pediatrics, Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Schlotawa L; Department of Pediatrics and Adolescent Medicine, University Medical Center Goettingen, 37075 Goettingen, Germany; Translational Neuroinflammation and Automated Microscopy, Fraunhofer Institute for Translational Medicine and Pharmacology, 37075 Goettingen, Germany., Adang LA; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Kuhs A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Cassidy MM; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Kane O; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Tsai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Presa M; The Jackson Laboratory, Rare Disease Translational Center, Bar Harbor, ME 04609, USA., Lutz C; The Jackson Laboratory, Rare Disease Translational Center, Bar Harbor, ME 04609, USA., Rivella SB; Department of Pediatrics, Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; RNA Institute, University of Pennsylvania, Philadelphia, PA 19104, USA., Ahrens-Nicklas RC; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: ahrensnicklasr@email.chop.edu.

Publikováno v: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2024 Nov 06; Vol. 32 (11), pp. 3829-3846. Date of Electronic Publication: 2024 Aug 22.

A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.

Autor: Pham V; The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; University of Pennsylvania, Perelman School of Medicine, Department of Pediatrics, Philadelphia, PA 19104, USA. Electronic address: vi.pham@pennmedicine.upenn.edu., Sertori Finoti L; The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA. Electronic address: sertorifil@chop.edu., Cassidy MM; The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; University of Pennsylvania, Perelman School of Medicine, Department of Pediatrics, Philadelphia, PA 19104, USA. Electronic address: maggie.cassidy@pennmedicine.upenn.edu., Maguire JA; The Children's Hospital of Philadelphia, Center for Cellular and Molecular Therapeutics, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA. Electronic address: maguirej@chop.edu., Gagne AL; The Children's Hospital of Philadelphia, Center for Cellular and Molecular Therapeutics, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA. Electronic address: gagnea@chop.edu., Waxman EA; The Children's Hospital of Philadelphia, Center for Cellular and Molecular Therapeutics, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; Center for Epilepsy and NeuroDevelopmental Disorders (ENDD), The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Electronic address: waxmane@chop.edu., French DL; The Children's Hospital of Philadelphia, Center for Cellular and Molecular Therapeutics, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; Center for Epilepsy and NeuroDevelopmental Disorders (ENDD), The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; University of Pennsylvania, Perelman School of Medicine, Department of Pathology and Laboratory Medicine, Philadelphia, PA 19104, USA. Electronic address: frenchd@chop.edu., King K; The Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: kingc9@chop.edu., Zhou Z; Department of Chemistry, University of Washington, Seattle, WA 98195, USA., Gelb MH; Department of Chemistry, University of Washington, Seattle, WA 98195, USA. Electronic address: gelb@uw.edu., Wongkittichote P; The Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Hong X; University of Pennsylvania, Perelman School of Medicine, Department of Pathology and Laboratory Medicine, Philadelphia, PA 19104, USA; The Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: hongx@chop.edu., Schlotawa L; University Medical Center Goettingen, Department of Pediatrics and Adolescent Medicine, Robert-Koch-Str. 40, 37075 Goettingen, Germany; Fraunhofer Institute for Translational Medicine and Pharmacology - Translational Neuroinflammation and Automated Microscopy, Robert-Koch-Str. 40, 37075, Goettingen, Germany. Electronic address: lars.schlotawa@med.uni-goettingen.de., Davidson BL; The Children's Hospital of Philadelphia, Center for Cellular and Molecular Therapeutics, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; University of Pennsylvania, Perelman School of Medicine, Department of Pathology and Laboratory Medicine, Philadelphia, PA 19104, USA. Electronic address: davidsonbl@chop.edu., Ahrens-Nicklas RC; The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; University of Pennsylvania, Perelman School of Medicine, Department of Pediatrics, Philadelphia, PA 19104, USA. Electronic address: ahrensnicklasr@chop.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Feb; Vol. 141 (2), pp. 108116. Date of Electronic Publication: 2023 Dec 21.

The Effects of N-Acetyl-L-Leucine on the Improvement of Symptoms in a Patient with Multiple Sulfatase Deficiency.

Autor: Saberi-Karimian M; International UNESCO Center for Health Related Basic Sciences and Human Nutrition, Mashhad University of Medical Sciences, Mashhad, Iran.; Endoscopic and Minimally Invasive Surgery Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Houra M; Department of Midwifery, School of Nursing and Midwifery, Mashhad University of Medical Sciences, Mashhad, Iran., Jamialahmadi T; Applied Biomedical Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Surgical Oncology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Sarvghadi P; Atiyeh Rehabilitation Center, Mashhad, Iran., Nikbaf M; Student Research Committee, Tabriz University of Medical Sciences, Tabriz, Iran., Akhlaghi S; Psychiatry and Behavioral Sciences Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Sahebkar A; Applied Biomedical Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. amir_saheb2000@yahoo.com.; Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran. amir_saheb2000@yahoo.com.; School of Medicine, The University of Western Australia, Perth, WA, Australia. amir_saheb2000@yahoo.com.; Department of Biotechnology, School of Pharmacy, Mashhad University of Medical Sciences, Mashhad, Iran. amir_saheb2000@yahoo.com.

Publikováno v: Cerebellum (London, England) [Cerebellum] 2023 Dec; Vol. 22 (6), pp. 1250-1256. Date of Electronic Publication: 2022 Dec 09.

The effect of intravenous trehalose administration in a patient with multiple sulfatase deficiency.

Autor: Radbakhsh, Shabnam¹, Mobini, Moein², Gumpricht, Eric³, Banach, Maciej⁴, Jamialahmadi, Tannaz⁵, Sahebkar, Amirhossein^5,6 amir_saheb2000@yahoo.com

Publikováno v: Archives of Medical Science. Sep2023, Vol. 19 Issue 5, p1564-1568. 5p.

A Rare Case of Late Infantile Form of Multiple Sulfatase Deficiency

Autor: Megha P. Lakum, Jignaben K. Padhiyar, Nayankumar H. Patel, Kathak A. Patel

Publikováno v: Indian Dermatology Online Journal, Vol 15, Iss 6, Pp 1012-1016 (2024)

Externí odkaz: https://doaj.org/article/e8516c27c0ff44e495c4b87e2e545945