T. Dinur

发表

Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sites.

R. Desnick, S. Gatt, G. Grabowski, 1988, Enzyme.

Color Discrimination in Patients with Gaucher Disease and Parkinson Disease.

Nir Giladi, A. Bar‐Shira, D. Elstein, 2015, Journal of Parkinson's disease.

Hrp48 attenuates Sxl expression to allow for proper notch expression and signaling in wing development

Yossi Kalifa, P. Schedl, G. Deshpande, 2010, Proceedings of the National Academy of Sciences.

Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa

C. Hollak, S. Revel-Vilk, M. Maas, 2018, Journal of Inherited Metabolic Disease.

Parkinson's Clustering in Families of Non-Neuronopathic N370S GBA Mutation Carriers Indicates the Presence of Genetic Modifiers.

D. Arkadir, S. Revel-Vilk, A. Zimran, 2021, Journal of Parkinson's disease.

Comparison of Bone Mineral Density by Dual-Energy X-Ray Absorptiometry and Bone Strength by Speed-of-Sound Ultrasonography in Adults With Gaucher Disease.

E. Lebel, D. Elstein, A. Zimran, 2016, Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry.

Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.

W. Chung, S. Fahn, H. Rana, 2014, JAMA neurology.

Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease

J. Szer, S. Revel-Vilk, A. Zimran, 2020, Orphanet Journal of Rare Diseases.

Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA‐related Parkinson's disease

D. Arkadir, N. Brüggemann, A. Rolfs, 2019, European journal of neurology.

Bactericidal and cytotoxic effects of sodium hypochlorite and sodium dichloroisocyanurate solutions in vitro.

D. Steinberg, I. Rotstein, T. Dinur, 2001, Journal of endodontics.

Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease

D. Arkadir, A. Rolfs, S. Revel-Vilk, 2019, Journal of clinical medicine.

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

A. Rolfs, S. Revel-Vilk, A. Zimran, 2019, International journal of molecular sciences.

Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease

D. Arkadir, A. Rolfs, S. Revel-Vilk, 2019, Journal of clinical medicine.

Importance of splicing for prosaposin sorting.

M. Horowitz, S. Gatt, A. Dagan, 1999, The Biochemical journal.

The NAB-Brk Signal Bifurcates at JNK to Independently Induce Apoptosis and Compensatory Proliferation*

O. Ziv, E. Arama, Yaron Suissa, 2011, The Journal of Biological Chemistry.

Combined beta-glucosylceramide and ambroxol hydrochloride in patients with Gaucher related Parkinson disease: From clinical observations to drug development.

D. Arkadir, J. Szer, Y. Ilan, 2018, Blood cells, molecules & diseases.

Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations.

D. Arkadir, H. Baris, A. Mehta, 2018, Blood cells, molecules & diseases.

Ceramide toxicity and metabolism differ in wild-type and multidrug-resistant cancer cells.

A. Giuliano, M. Cabot, A. Lucci, 1999, International journal of oncology.

Synthesis of a fluorescent derivative of glucosyl ceramide for the sensitive determination of glucocerebrosidase activity.

R. Desnick, S. Gatt, G. Grabowski, 1984, Analytical biochemistry.

Fluorescence-based selection of retrovirally transduced cells in the absence of a marker gene: direct selection of transduced type B Niemann-Pick disease cells and evidence for bystander correction.

R. Desnick, V. Agmon, P. Yeyati, 1995, Human gene therapy.

Human Acid β-Glucosidase: Primary Structure of the Active Site

R. Desnick, S. Gatt, G. Grabowski, 1986 .

Intracellular degradation of fluorescent glycolipids by lysosomal enzymes and their activators

M. Horowitz, S. Gatt, A. Dagan, 1999, Journal of Inherited Metabolic Disease.

Genetic Heterogeneity of Gaucher Disease: Enzymatic and Immunologic Studies

R. Desnick, J. Goldblatt, S. Gatt, 1986 .

Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients.

R. Desnick, J. Goldblatt, S. Gatt, 1985, American journal of medical genetics.

Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine.

S. Gatt, G. Grabowski, G. Legler, 1985, American journal of human genetics.

A fluorometric determination of sphingomyelinase by use of fluorescent derivatives of sphingomyelin, and its application to diagnosis of Niemann-Pick disease.

Y. Barenholz, S. Gatt, T. Dinur, 1980, Clinical chemistry.

A spectrophotometric method for determination of sphingomyelinase.

Y. Barenholz, S. Gatt, T. Dinur, 1978, Biochimica et biophysica acta.

Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

A. Rolfs, C. Beetz, S. Revel-Vilk, 2022, International journal of molecular sciences.

A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease—Identifying Those at the Greatest Risk

D. Arkadir, D. Berg, A. Rolfs, 2022, International journal of molecular sciences.

Substrate Reduction Therapy for GBA1‐Associated Parkinsonism: Are We Betting on the Wrong Mouse?

D. Arkadir, P. Bauer, A. Rolfs, 2019, Movement disorders : official journal of the Movement Disorder Society.

Gaucher type I (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate.

R. Desnick, S. Gatt, G. Grabowski, 1982, Clinica chimica acta; international journal of clinical chemistry.

Inverse regulation of target genes at the brink of the BMP morphogen activity gradient

G. Deshpande, O. Ziv, Yaron Suissa, 2012, Journal of Cell Science.

EGFR signaling attenuates Groucho-dependent repression to antagonize Notch transcriptional output

Z. Paroush, S. Jia, A. Courey, 2005, Nature Genetics.

Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells based on acid sphingomyelinase expression.

E. Schuchman, S. Gatt, S. Erlich, 2000, Methods in enzymology.

Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells.

E. Gilboa, R. Desnick, E. Schuchman, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Administration of pyrene lipids by receptor-mediated endocytosis and their degradation in skin fibroblasts.

V. Agmon, S. Gatt, A. Dagan, 1991, Experimental cell research.

Synthesis of fluorescent substrates and their application to study of sphingolipid metabolism in vitro and in intact cells.

V. Agmon, S. Gatt, A. Dagan, 2000, Methods in enzymology.

Use of Fluorescent Derivatives for Labeling Cells; Diagnosing, Preventing, and Correcting Genetic Diseases; Photosynthesizing and Killing of Tumors, Parasites, and Viruses

V. Agmon, S. Gatt, A. Dagan, 1996 .

Magnesium-dependent sphingomyelinase of infantile brain. Effect of detergents and a heat-stable factor.

S. Gatt, T. Dinur, Z. Leibovitz-Ben Gershon, 1978, Biochimica et biophysica acta.

Effect of detergents on the utilization of sphingomyelin by brain sphingomyelinases.

S. Gatt, S. Yedgar, T. Dinur, 1978, Advances in experimental medicine and biology.

Real-Life Experience with Oral Eliglustat in Patients with Gaucher Disease Previously Treated with Enzyme Replacement Therapy

S. Revel-Vilk, A. Zimran, T. Dinur, 2022, Journal of clinical medicine.

Glucosylsphingosine is a reliable response biomarker in Gaucher disease

D. Arkadir, S. Eichler, A. Rolfs, 2018, American journal of hematology.

Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site.

R. Desnick, S. Gatt, G. Grabowski, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Liposome-mediated, fluorescence-based studies of sphingolipid metabolism in intact cells.

S. Gatt, A. Dagan, T. Dinur, 2002, Methods in molecular biology.

Intracellular degradation of sulforhodamine-GM1: use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cells.

V. Agmon, S. Gatt, R. Navon, 1996, Clinica chimica acta; international journal of clinical chemistry.

NIEMANN PICK DISEASE: PRESENCE OF THE MAGNESIUM‐DEPENDENT SPHINGOMYELINASE IN BRAIN OF THE INFANTILE FORM OF THE DISEASE 1

S. Gatt, J. Kopolovic, T. Dinur, 1978, Journal of neurochemistry.

Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes.

R. Desnick, S. Gatt, G. Grabowski, 1986, The Journal of biological chemistry.

Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations

A. Rolfs, U. Grittner, S. Revel-Vilk, 2021, International journal of molecular sciences.

Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin.

R. Desnick, E. Schuchman, S. Gatt, 1992, Human gene therapy.

Assay of enzymes of lipid metabolism with colored and fluorescent derivatives of natural lipids.

Y. Barenholz, R. Desnick, S. Gatt, 1981, Methods in enzymology.

Diagnosing sphingolipidoses in murine and human embryos.

V. Agmon, S. Gatt, E. Fibach, 1993, Human reproduction.

Photosensitization of cultured cells and viruses by pyrene lipids.

M. Kotler, S. Gatt, E. Fibach, 1990, Indian journal of biochemistry & biophysics.

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

D. Zeevi, A. Rolfs, E. Levy-Lahad, 2015, The Journal of clinical investigation.

Are transient and shear wave elastography useful tools in Gaucher disease?

D. Steinberg, O. Shibolet, M. Webb, 2018, Blood cells, molecules & diseases.

Hepatocellular carcinoma in Gaucher disease: an international case series

A. Canbay, D. Häussinger, C. Hollak, 2018, Journal of Inherited Metabolic Disease.

Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data

U. Ramaswami, B. Kieć-Wilk, S. Revel-Vilk, 2021, American journal of hematology.

Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease

A. Rolfs, C. Beetz, S. Revel-Vilk, 2023, International journal of molecular sciences.

Rapid velaglucerase alfa infusion for Gaucher disease: 5‐year data

J. Szer, S. Revel-Vilk, A. Zimran, 2022, Internal medicine journal.

Macular Ganglion Cell Complex and Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Type-1 Gaucher Disease

D. Arkadir, S. Revel-Vilk, D. Zadok, 2020, International journal of molecular sciences.

An eh1-Like Motif in Odd-skipped Mediates Recruitment of Groucho and Repression In Vivo

Z. Paroush, O. Cook, Umesh C. Karandikar, 2005, Molecular and Cellular Biology.

The definition of neuronopathic Gaucher disease

D. Arkadir, R. Schiffmann, J. Szer, 2020, Journal of inherited metabolic disease.

Platelet Activation and Reactivity in a Large Cohort of Patients with Gaucher Disease

A. Michelson, S. Revel-Vilk, A. Zimran, 2021, Thrombosis and Haemostasis.

Use of activators and inhibitors to define the properties of the active site of normal and Gaucher disease lysosomal beta-glucosidase.

R. Desnick, S. Gatt, G. Grabowski, 1985, Enzyme.

The co-regulator dNAB interacts with Brinker to eliminate cells with reduced Dpp signaling

Marta Portela, Hadar Neuman, O. Ziv, 2009, Development.

High-Dose Ambroxol Therapy in Type 1 Gaucher Disease Focusing on Patients with Poor Response to Enzyme Replacement Therapy or Substrate Reduction Therapy

J. Szer, A. Zimran, T. Dinur, 2023, International journal of molecular sciences.

The co-regulator dNAB interacts with Brinker to eliminate cells with reduced Dpp signaling

Marta Portela, Hadar Neuman, O. Ziv, 2009, Development.

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study

A. Rolfs, U. Grittner, C. Beetz, 2023, Diagnostics.