Literature DB >> 16434676

Substrate reduction therapy in the infantile form of Tay-Sachs disease.

B Bembi1, F Marchetti, V I Guerci, G Ciana, R Addobbati, D Grasso, R Barone, R Cariati, L Fernandez-Guillen, T Butters, M G Pittis.   

Abstract

Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two patients with infantile TSD. SRT could not arrest the patients' neurologic deterioration. However, a significant drug concentration in CSF as well as macrocephaly prevention were observed.

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Year:  2006        PMID： 16434676     DOI： 10.1212/01.wnl.0000194225.78917.de

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  20 in total

1.  Substrate deprivation therapy in juvenile Sandhoff disease.

Authors:  S B Wortmann; D J Lefeber; G Dekomien; M A A P Willemsen; R A Wevers; E Morava
Journal:  J Inherit Metab Dis       Date:  2009-11-04       Impact factor: 4.982

Review 2.  The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.

Authors:  Debra S Regier; Richard L Proia; Alessandra D'Azzo; Cynthia J Tifft
Journal:  Pediatr Endocrinol Rev       Date:  2016-06

3.  Infantile gangliosidoses: Mapping a timeline of clinical changes.

Authors:  Jeanine R Jarnes Utz; Sarah Kim; Kelly King; Richard Ziegler; Lynn Schema; Evelyn S Redtree; Chester B Whitley
Journal:  Mol Genet Metab       Date:  2017-04-29       Impact factor: 4.797

4.  Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up.

Authors:  Marcella Masciullo; Massimo Santoro; Anna Modoni; Enzo Ricci; Jerome Guitton; Pietro Tonali; Gabriella Silvestri
Journal:  J Inherit Metab Dis       Date:  2010-09-04       Impact factor: 4.982

5.  Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease.

Authors:  V J McCurdy; H E Rockwell; J R Arthur; A M Bradbury; A K Johnson; A N Randle; B L Brunson; M Hwang; H L Gray-Edwards; N E Morrison; J A Johnson; H J Baker; N R Cox; T N Seyfried; M Sena-Esteves; D R Martin
Journal:  Gene Ther       Date:  2014-12-04       Impact factor: 5.250

Review 6.  Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases.

Authors:  Joanna Jakóbkiewicz-Banecka; Alicja Wegrzyn; Grzegorz Wegrzyn
Journal:  J Appl Genet       Date:  2007       Impact factor: 3.240

7.  Prognostic relevance of glucosylceramide synthase (GCS) expression in breast cancer.

Authors:  Eugen Ruckhäberle; Thomas Karn; Lars Hanker; Regine Gätje; Dirk Metzler; Uwe Holtrich; Manfred Kaufmann; Achim Rody
Journal:  J Cancer Res Clin Oncol       Date:  2008-06-17       Impact factor: 4.553

8.  Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease.

Authors:  Allison M Bradbury; Heather L Gray-Edwards; Jamie L Shirley; Victoria J McCurdy; Alexandria N Colaco; Ashley N Randle; Pete W Christopherson; Allison C Bird; Aime K Johnson; Diane U Wilson; Judith A Hudson; Nicholas L De Pompa; Donald C Sorjonen; Brandon L Brunson; Mylvaganam Jeyakumar; Frances M Platt; Henry J Baker; Nancy R Cox; Miguel Sena-Esteves; Douglas R Martin
Journal:  Exp Neurol       Date:  2014-10-05       Impact factor: 5.330

9.  Substrate Reduction Therapy for Sandhoff Disease through Inhibition of Glucosylceramide Synthase Activity.

Authors:  John Marshall; Jennifer B Nietupski; Hyejung Park; James Cao; Dinesh S Bangari; Cristina Silvescu; Terry Wilper; Kristen Randall; Drew Tietz; Bing Wang; Xiaoyou Ying; John P Leonard; Seng H Cheng
Journal:  Mol Ther       Date:  2019-06-04       Impact factor: 11.454

10.  Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.

Authors:  Ji Hong Park; Jung Min Ko; Min Sun Kim; Man Jin Kim; Moon-Woo Seong; Taekyeong Yoo; Byung Chan Lim; Jong-Hee Chae
Journal:  Mol Genet Genomic Med       Date:  2021-04-03       Impact factor: 2.183
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