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■ Abbreviation / Long Form : SD / Sandhoff disease

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Total Number of Papers: 49
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Abbreviation:   SD  (>> Co-occurring Abbreviation)
Long Form:   Sandhoff disease
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No. Year Title Co-occurring Abbreviation
2019 Abnormal organization during neurodevelopment in a mouse model of Sandhoff disease. NSCs
2019 Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families. HEXB, ID, MBOAT7, WES
2019 Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease. GAG, HEX, PCA, RPLC
2019 [Analysis of HEXB gene mutations in an infant with Sandhoff disease]. ---
2018 Improvement in dysmyelination by the inhibition of microglial activation in a mouse model of Sandhoff disease. Hex B, Hexb
2018 Inhibition of astrocytic adenosine receptor A2A attenuates microglial activation in a mouse model of Sandhoff disease. CNS, Hex
2018 Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice. scAAV9
2017 AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease. AAV, CNS, Hex, MHC-II, MIP-1alpha
2017 Abnormal differentiation of Sandhoff disease model mouse-derived multipotent stem cells toward a neural lineage. GM2, Hex, NSCs
10  2017 Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff disease. DIPL, Hex
11  2017 FcRgamma-dependent immune activation initiates astrogliosis during the asymptomatic phase of Sandhoff disease model mice. Hex
12  2016 Accumulated alpha-synuclein affects the progression of GM2 gangliosidoses. aSyn, LSDs
13  2016 Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. ---
14  2016 Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease. Hex
15  2016 Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice. Hex, MIP-1alpha, UDP
16  2016 Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease. AAV, GM2, GM2AP, Hex A, sc, TSD
17  2016 Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice. GM2AP, Hex A, mu-subunit, scAAV
18  2016 TSPO in a murine model of Sandhoff disease: presymptomatic marker of neurodegeneration and disease pathophysiology. PBR
19  2015 AAV-mediated gene delivery in a feline model of Sandhoff disease corrects lysosomal storage in the central nervous system. AAV
20  2015 Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease. CSF, MRI, TSD
21  2015 Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates. AAV9
22  2015 Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy. GAGs
23  2015 Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease. AAV, CNS, HEX
24  2014 Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses. TSD
25  2014 Reversibility of neuropathology in Tay-Sachs-related diseases. ---
26  2013 Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. ---
27  2013 Deletion of tumor necrosis factor-alpha ameliorates neurodegeneration in Sandhoff disease mice. CNS, TNF-alpha
28  2013 Impaired neural differentiation of induced pluripotent stem cells generated from a mouse model of Sandhoff disease. iPSC, SD-iPSCs
29  2013 Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy. AAV
30  2012 Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow. CSF, Hex A, rAAV
31  2012 Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. MLPA
32  2012 Therapeutic effects of stem cells and substrate reduction in juvenile Sandhoff mice. GA2, NB-DGJ, NSCs
33  2011 Prostaglandin E2 reverses aberrant production of an inflammatory chemokine by microglia from Sandhoff disease model mice through the cAMP-PKA pathway. Hex, PGE2
34  2011 Therapeutic potential of intracerebroventricular replacement of modified human beta-hexosaminidase B for GM2 gangliosidosis. CHO, Hex, TSD, WT
35  2011 Thymic involution and corticosterone level in Sandhoff disease model mice: new aspects the pathogenesis of GM2 gangliosidosis. GM2, TUNEL
36  2010 Introduction of an N-glycan sequon into HEXA enhances human beta-hexosaminidase cellular uptake in a model of Sandhoff disease. CHO, ERT, GM2, i.c.v, M6P
37  2010 Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients. ---
38  2009 Abnormal production of macrophage inflammatory protein-1alpha by microglial cell lines derived from neonatal brains of Sandhoff disease model mice. MIP-1alpha, PKC, PLC
39  2009 Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease. GA2, GSL
40  2009 Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. mRNA, NMD
41  2007 Neurochemical, morphological, and neurophysiological abnormalities in retinas of Sandhoff and GM1 gangliosidosis mice. ---
42  2006 Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis. Hex A, NGT, TSD
43  2006 Inefficiency in GM2 ganglioside elimination by human lysosomal beta-hexosaminidase beta-subunit gene transfer to fibroblastic cell line derived from Sandhoff disease model mice. GM2, Hex, Native-PAGE, SD mice
44  2006 Influence of caloric restriction on motor behavior, longevity, and brain lipid composition in Sandhoff disease mice. AL, CR, GA2
45  2004 Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy. TSD
46  2004 Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses. FcR gamma
47  2003 Neuronal accumulation of alpha- and beta-synucleins in the brain of a GM2 gangliosidosis mouse model. ---
48  2002 Inclusions in novel perivascular macrophages (Mato's fluorescent granular perithelial cells) and neurons in the cerebral cortex of Hex A- and Hex B-deficient mice. DKO, GAG, MCB, TS
49  2002 Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. DBSs, HA, NSC, TH, TSD