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1

Mutation analysis of an Ashkenazi Jewish family with gaucher disease in three successive generations

Edwin H. Kolodny, Nurit Firon, Nurit Eyal, Mia Horowitz

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 626 KB

english, 1990

2

Unfolded protein response in Gaucher disease: from human toDrosophila

Maor, Gali, Rencus-Lazar, Sigal, Filocamo, Mirella, Steller, Hermann, Segal, Daniel, Horowitz, Mia

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 730 KB

english, 2013

3

Novel Mechanism for RNA Maturation: The Leader Sequences of Simian Virus 40 mRNA are not Transcribed Adjacent to the Coding Sequences

Yosef Aloni, Ravi Dhar, Orgad Laub, Mia Horowitz and George Khoury

Journal:

Proceedings of the National Academy of Sciences

Year:

1977

Language:

english

File:

PDF, 1.21 MB

english, 1977

4

Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTS

Bendikov-Bar, Inna, Rapaport, Debora, Larisch, Sarit, Horowitz, Mia

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 871 KB

english, 2014

5

New Directions in Gaucher Disease

Horowitz, Mia, Elstein, Deborah, Zimran, Ari, Goker-Alpan, Ozlem

Journal:

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

6

Inflammation and its alleviation in a fly model for neuronopathic Gaucher disease

Horowitz, Mia, Paul, Sumit, Dorot, Orly, Maor, Gali, Aerts, Johannes, Cabasso, Or

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 343 KB

2020

7

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

Mia Horowitz, Metsada Pasmanik-Chor, Zvi Borochowitz, Tzipora Falik-Zaccai, Keren Heldmann, Rivka Carmi, Ruth Parvari, Hannah Beit-Or, Boleslav Goldman, Lea Peleg, Ephrat Levy-Lahad, Paul Renbaum, Sea

Journal:

Year:

1998

Language:

english

File:

PDF, 302 KB

english, 1998

8

RecTL: A complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease

Ari Zimran, Mia Horowitz

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 583 KB

english, 1994

9

Mutations causing gaucher disease

Mia Horowitz, Ari Zimran

Journal:

Year:

1994

Language:

english

File:

PDF, 986 KB

english, 1994

10

EHD3: A Protein That Resides in Recycling Tubular and Vesicular Membrane Structures and Interacts with EHD1

Emilia Galperin, Sigi Benjamin, Debora Rapaport, Rinat Rotem-Yehudar, Sandra Tolchinsky, Mia Horowitz

Journal:

Year:

2002

Language:

english

File:

PDF, 1.13 MB

english, 2002

11

Three unique base pair changes in a family with Gaucher disease

Nurit Eyal, Nurit Firon, Sylvia Wilder, Edwin H. Kolodny, Mia Horowitz

Journal:

Year:

1991

Language:

english

File:

PDF, 718 KB

english, 1991

12

The Evolutionary History of Prosaposin: Two Successive Tandem-Duplication Events Gave Rise to the Four Saposin Domains in Vertebrates

Einat Hazkani-Covo, Neta Altman, Mia Horowitz, Dan Graur

Journal:

Journal of Molecular Evolution

Year:

2002

Language:

english

File:

PDF, 222 KB

english, 2002

13

Recycling to the Plasma Membrane is Delayed in EHD1 Knockout Mice

Debora Rapaport, Wojtek Auerbach, Naava Naslavsky, Metsada Pasmanik-Chor, Emilia Galperin, Amos Fein, Steve Caplan, Alexandra L. Joyner, Mia Horowitz

Journal:

Year:

2006

Language:

english

File:

PDF, 7.97 MB

english, 2006

14

Splicing of SV40 late mRNA is a post-transcriptional process

HOROWITZ, MIA, LAUB, ORGAD, BRATOSIN, SUSAN, ALONI, YOSEF

Journal:

Year:

1978

File:

PDF, 421 KB

1978

15

Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system

Hodaňová, Kateřina, Mělková, Zora, Horowitz, Mia, Hřebíček, Martin

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 101 KB

english, 2003

16

AtEHDs, novel Arabidopsis EH-domain-containing proteins involved in endocytosis

Maya Bar, Maya Aharon, Sigi Benjamin, Barak Rotblat, Mia Horowitz, Adi Avni

Journal:

The Plant Journal

Year:

2008

Language:

english

File:

PDF, 1.20 MB

english, 2008

17

EHDS are serine phosphoproteins: EHD1 phosphorylation is enhanced by serum stimulation

Boris Fichtman, Liat Ravid, Debora Rapaport, Mia Horowitz

Journal:

Cellular & Molecular Biology Letters

Year:

2008

Language:

english

File:

PDF, 1.10 MB

english, 2008

18

Gaucher disease paradigm: From ERAD to comorbidity

Inna Bendikov-Bar, Mia Horowitz

Journal:

Year:

2012

Language:

english

File:

PDF, 403 KB

english, 2012

19

The Glucocerebrosidase D409H Mutation in Gaucher Disease

Metsada Pasmanik-Chor, Sharon Laadan, Orna Elroy-Stein, Ari Zimran, Ayala Abrahamov, Shimon Gatt, Mia Horowitz

Journal:

Biochemical and Molecular Medicine

Year:

1996

Language:

english

File:

PDF, 775 KB

english, 1996

20

Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency

Peg J. Suess, Michael Y. Tsai, Robert A. Holzknecht, Mia Horowitz, Mendel Tuchman

Journal:

Biochemical Medicine and Metabolic Biology

Year:

1992

Language:

english

File:

PDF, 702 KB

english, 1992

21

2 Gaucher's disease: molecular, genetic and enzymological aspects

Gregory A. Grabowski, Mia Horowitz

Journal:

Baillière's Clinical Haematology

Year:

1997

Language:

english

File:

PDF, 1.75 MB

english, 1997

22

Cytokine mRNA in Gaucher Disease

Michal Lichtenstein, Ari Zimran, Mia Horowitz

Journal:

Blood Cells, Molecules, and Diseases

Year:

1997

Language:

english

File:

PDF, 94 KB

english, 1997

23

Genetic Mapping of the Mouse Prosaposin Gene (Psap) to Mouse Chromosome 10

Christine A. Kozak, M.Charlene Adamson, Mia Horowitz

Journal:

Year:

1994

File:

PDF, 211 KB

1994

24

EHD1—An EH-Domain-Containing Protein with a Specific Expression Pattern

Liat Mintz, Emilia Galperin, Metsada Pasmanik-Chor, Sandra Tulzinsky, Yael Bromberg, Christine A. Kozak, Alexandra Joyner, Amos Fein, Mia Horowitz

Journal:

Year:

1999

Language:

english

File:

PDF, 654 KB

english, 1999

25

Low-dose enzyme replacement therapy for Gaucher's disease: Effects of age, sex, genotype, and clinical features on response to treatment

Ari Zimran, Deborah Elstein, Ruth Kannai, Shoshana Zevin, Irith Hadas-Halpern, Ephrat Levy-Lahad, Yael Cohen, Mia Horowitz, Ayala Abrahamov

Journal:

The American Journal of Medicine

Year:

1994

Language:

english

File:

PDF, 1.19 MB

english, 1994

26

EHD1 regulates cholesterol homeostasis and lipid droplet storage

Naava Naslavsky, Juliati Rahajeng, Debora Rapaport, Mia Horowitz, Steve Caplan

Journal:

Biochemical and Biophysical Research Communications

Year:

2007

Language:

english

File:

PDF, 941 KB

english, 2007

27

Use of fluorescent substrates for characterization of Gaucher disease mutations

Idit Ron, Arie Dagan, Shimon Gatt, Metzada Pasmanik-Chor, Mia Horowitz

Journal:

Blood Cells, Molecules, and Diseases

Year:

2005

Language:

english

File:

PDF, 269 KB

english, 2005

28

Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant

Inna Bendikov-Bar, Idit Ron, Mirella Filocamo, Mia Horowitz

Journal:

Blood Cells, Molecules, and Diseases

Year:

2011

Language:

english

File:

PDF, 735 KB

english, 2011

29

Conservation of expression and alternative splicing in the prosaposin gene

Tsadok Cohen, Liat Ravid, Netta Altman, Liora Madar-Shapiro, Amos Fein, Miguel Weil, Mia Horowitz

Journal:

Molecular Brain Research

Year:

2004

Language:

english

File:

PDF, 1.13 MB

english, 2004

30

New directions in the treatment of Gaucher disease

Anthony H Futerman, Joel L Sussman, Mia Horowitz, Israel Silman, Ari Zimran

Journal:

Trends in Pharmacological Sciences

Year:

2004

Language:

english

File:

PDF, 283 KB

english, 2004

31

50 ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

Mia Horowitz, Idit Ron, Adi Ben-Ari

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 57 KB

english, 2007

32

42. The possible implication of lowering cholesterol level in Gaucher disease patients

Mia Horowitz, Idit Ron

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 56 KB

english, 2008

33

Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients

Idit Ron, Mia Horowitz

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 2.41 MB

english, 2008

34

68. Interaction between parkin and glucocerebrosidase: A possible link between Parkinson disease and Gaucher disease

Mia Horowitz, Idit Ron

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

35

62. Interaction between mutant glucocerebrosidase and Parkin: Its possible implication to the development of Parkinson disease

Mia Horowitz, Idit Ron, Inna Bar

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 41 KB

english, 2010

36

ER associated degradation and unfolded protein response of mutant glucocerebrosidase variants

Mia Horowitz, Idit Ron, Hedva Shmerling, Inna Bar, Gali Fiterman

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 53 KB

english, 2011

37

The enigma of the E326K mutation in acid β-glucocerebrosidase

Mia Horowitz, Metsada Pasmanik-Chor, Idit Ron, Edwin H. Kolodny

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 421 KB

english, 2011

38

The E3 Ligase Itch Regulates Degradation of Mutant Glucocerebrosidase

Mia Horowitz, Gali Fiterman

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

39

Identification of factors regulating the expression of the human glucocerebrosidase gene

Dan Moran, Emilia Galperin, Mia Horowitz

Journal:

Year:

1997

Language:

english

File:

PDF, 685 KB

english, 1997

40

Gynecologic and obstetric aspects of Gaucher's disease: A survey of 53 patients

Sorina Granovsky-Grisaru, Yeshaya Aboulafia, Yoram Z. Diamant, Mia Horowitz, Ayalah Abrahamov, Ari Zimran

Journal:

American Journal of Obstetrics and Gynecology

Year:

1995

Language:

english

File:

PDF, 743 KB

english, 1995

41

The initiation of transcription of sv40 DNA at late time after infection

Orgad Laub, Susan Bratosin, Mia Horowitz, Yosef Aloni

Journal:

Year:

1979

Language:

english

File:

PDF, 7.83 MB

english, 1979

42

The metabolism of SV40 RNA is associated with the cytoskeletal framework

Avri Ben-Ze'ev, Mia Horowitz, Hagit Skolnik, Rivka Abulafia, Orgad Laub, Yosef Aloni

Journal:

Year:

1981

Language:

english

File:

PDF, 3.05 MB

english, 1981

43

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

Bendikov-Bar, Inna, Maor, Gali, Filocamo, Mirella, Horowitz, Mia

Journal:

Blood Cells, Molecules, and Diseases

Year:

2013

Language:

english

File:

PDF, 492 KB

english, 2013

44

Prevalent and rare mutations among Gaucher patients

Eyal, Nurit, Wilder, Sylvia, Horowitz, Mia

Journal:

Year:

1990

Language:

english

File:

PDF, 863 KB

english, 1990

45

The human glucocerebrosidase gene and pseudogene: Structure and evolution

Horowitz, Mia, Wilder, Sylvia, Horowitz, Zeev, Reiner, Orly, Gelbart, Terri, Beutler, Ernest

Journal:

Year:

1989

Language:

english

File:

PDF, 1.12 MB

english, 1989

46

The connection between ERAD, UPR, Gaucher disease and Parkinson disease

Horowitz, Mia, Rencus-Lazar, Sigal, Filocamo, Mirella, Steller, Hermann, Segal, Daniel, Maor, Gali

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

47

Electron microscopic evidence for splicing of SV40 late mRNAs

Bratosin, Susan, Horowitz, Mia, Laub, Orgad, Aloni, Yosef

Journal:

Year:

1978

Language:

english

File:

PDF, 16.53 MB

english, 1978

48

Differential expression of the human glucocerebrosidase-coding gene

Reiner, Orly, Horowitz, Mia

Journal:

Year:

1988

Language:

english

File:

PDF, 1.18 MB

english, 1988

49

Activation of the unfolded protein response in Gaucher disease

Maor, Gali, Horowitz, Mia

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 60 KB

english, 2013

50

Snake Acetylcholine Receptor: Cloning of the Domain Containing the Four Extracellular Cysteines of the α Subunit

Drorit Neumann, Dora Barchan, Mia Horowitz, Elazar Kochva and Sara Fuchs

Journal:

Proceedings of the National Academy of Sciences

Year:

1989

Language:

english

File:

PDF, 1.03 MB

english, 1989