S. Pittler

发表

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

T. Aleman, A. Cideciyan, S. Schwartz, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations.

A. Dizhoor, E. Olshevskaya, H. Ezzeldin, 2010, Biochemistry.

Sequence of rho small GTP-binding protein cDNAs from human retina and identification of novel 5' end cloning artifacts.

K. P. Fagan, S. Pittler, L. Oliveira, 1994, Experimental eye research.

Primary structure of frog rhodopsin

W. Baehr, S. Fliesler, S. Pittler, 1992, FEBS letters.

Role of RDS and Rhodopsin in Cngb1-Related Retinal Degeneration

Shannon M. Conley, M. Naash, S. Pittler, 2016, Investigative ophthalmology & visual science.

Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase beta-subunit gene in mouse and human: tight linkage to the Huntington disease region (4p16.3).

J. Nadeau, J. Wasmuth, M. Altherr, 1992, Genomics.

Lack of Overt Retinal Degeneration in a K42E Dhdds Knock-In Mouse Model of RP59

S. Fliesler, S. Pittler, Sriganesh Ramachandra Rao, 2020, Cells.

In vivo requirement of protein prenylation for maintenance of retinal cytoarchitecture and photoreceptor structure

P. Keller, S. Fliesler, S. Pittler, 1995, The Journal of cell biology.

In vitro isoprenylation and membrane association of mouse rod photoreceptor cGMP phosphodiesterase alpha and beta subunits expressed in bacteria.

W. Baehr, S. Pittler, N. Qin, 1992, The Journal of biological chemistry.

Cloning and expression of the glucocorticoid receptor from the squirrel monkey (Saimiri boliviensis boliviensis), a glucocorticoid-resistant primate.

S. Pittler, J. Scammell, P. D. Reynolds, 1997, The Journal of clinical endocrinology and metabolism.

Varying the GARP2-to-RDS Ratio Leads to Defects in Rim Formation and Rod and Cone Function.

Shannon M. Conley, M. Naash, S. Pittler, 2015, Investigative ophthalmology & visual science.

PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect.

R. Sidman, W. Baehr, S. Pittler, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Characterization of 3',5' cyclic nucleotide phosphodiesterase activity in Y79 retinoblastoma cells: absence of functional PDE6.

S. Pittler, W. Thompson, J. B. White, 2004, Molecular vision.

In vivo biosynthesis of cholesterol in the rat retina

S. Fliesler, S. Pittler, L. Rapp, 1993, FEBS letters.

Mouse opsin. Gene structure and molecular basis of multiple transcripts.

M. Al-Ubaidi, W. Baehr, S. Pittler, 1990, The Journal of biological chemistry.

Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration

S. Fliesler, S. Pittler, Sriganesh Ramachandra Rao, 2020, Cells.

N. Fineberg, G. Mcgwin, C. Huisingh, 2012, Documenta Ophthalmologica.

An interchromosomal gene conversion of the Drosophila dunce locus identified with restriction site polymorphisms: A potential involvement of transposable elements in gene conversion

H. Salz, S. Pittler, Ronald L. Davis, 1987, Molecular and General Genetics MGG.

Cell-specific expression of the rat secretogranin II promoter.

R. Day, S. Pittler, J. Scammell, 1996, Endocrinology.

Vertebrate Animal Models of RP59: Current Status and Future Prospects

S. Fliesler, S. Pittler, Sriganesh Ramachandra Rao, 2022, International journal of molecular sciences.

Complete cDNA sequences of mouse rod photoreceptor cGMP phosphodiesterase α‐ and β‐subunits, and identification of β′‐, a putative β‐subunit isozyme produced by alternative splicing of the β‐subunit gene

W. Baehr, S. Pittler, M. S. Champagne, 1991 .

Complete cDNA sequences of mouse rod photoreceptor cGMP phosphodiesterase alpha- and beta-subunits, and identification of beta'-, a putative beta-subunit isozyme produced by alternative splicing of the beta-subunit gene.

W. Baehr, S. Pittler, A. K. Lee, 1991, FEBS letters.

Genomic organization of the human rod photoreceptor cGMP-gated cation channel β-subunit gene

S. Pittler, R. Schoborg, M. Ardell, 2000 .

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

G. Fishman, H. Ezzeldin, J. Sunness, 2002, Archives of ophthalmology.

The Molecular Biology of the Rod Photoreceptor cGMP Phosphodiesterase α- and β-Subunits

W. Baehr, S. Pittler, 1992 .

Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity.

D. Zack, Z. Ren, A. Swaroop, 2004, The Journal of biological chemistry.

HSV antigens and HSV DNA in avascular and vascularized lesions of human herpes simplex keratitis.

W. Baehr, R. L. Font, L. Holbach, 1991, Current eye research.

Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene.

D. Ledbetter, R. Davis, J. Wasmuth, 1990, Genomics.

Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene.

R. Hurwitz, C. Craft, W. Baehr, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse.

W. Baehr, S. Pittler, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Novel morphological changes in rat retina induced by intravitreal injection of lovastatin.

S. Fliesler, S. Pittler, L. Rapp, 1992, Experimental eye research.

The β subunit of human rod photoreceptor cGMP‐gated cation channel is generated from a complex transcription unit

E. Burke, S. Pittler, L. Oliveira, 1996, FEBS letters.

Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase

T. Dryja, E. Berson, S. Pittler, 1995, Nature Genetics.

The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility*

Hongwei Ma, Jianhua Xu, M. Elliott, 2016, The Journal of Biological Chemistry.

Knockout of GARPs and the β-subunit of the rod cGMP-gated channel disrupts disk morphogenesis and rod outer segment structural integrity

G. Fain, S. Sarfare, M. Woodruff, 2009, Journal of Cell Science.

Reproducible high efficiency gene transfer into Y79 retinoblastoma cells using adenofection

S. Pittler, J. White, Russell E. Taylor, 2001, Journal of Neuroscience Methods.

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

D. Paslier, A. Munnich, E. Souied, 1996, Nature Genetics.

A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33.

D. Le Paslier, M. Lovett, E. Jabs, 1994, Genomics.

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness.

T. Aleman, A. Cideciyan, S. Jacobson, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Structure and upstream region characterization of the human gene encoding rod photoreceptor cGMP phosphodiesterase α-subunit

S. Pittler, M. Mohamed, Xizhong A. Huang, 1998, Journal of Molecular Neuroscience.

A new family of the poly-deoxyadenylated class of Drosophila transposable elements identified by a representative member at the dunce locus

S. Pittler, Ronald L. Davis, 1987, Molecular and General Genetics MGG.

Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel.

M. Seldin, J. Wasmuth, R. Hurwitz, 1992, The Journal of biological chemistry.

Three-Dimensional Architecture of the Rod Sensory Cilium and Its Disruption in Retinal Neurodegeneration

Wah Chiu, Theodore G. Wensel, Jared C. Gilliam, 2012, Cell.

GARP2 accelerates retinal degeneration in rod cGMP-gated cation channel β-subunit knockout mice

G. Mcgwin, C. Huisingh, S. Pittler, 2017, Scientific Reports.

GENETIC MAPPING AND EVALUATION OF PDE6A IN 49 SPANISH FAMILIES WITH AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA

S. Balcells, A. Martinez-Mir, R. Gonzàlez-Duarte, 1999 .

Syntenic assignments of visual transduction genes in cattle.

J. Womack, W. Baehr, D. Gallagher, 1992, Genomics.

Overexpression of rod photoreceptor glutamic acid rich protein 2 (GARP2) increases gain and slows recovery in mouse retina

S. Sarfare, J. Messinger, S. Pittler, 2014, Cell Communication and Signaling.

Clyde Edgar Keeler (1900–1994)

R. Sidman, S. Pittler, I. K. Howard, 1995 .

Nonsense Mutations in the ß Subunit Gene of the Rod cGMP Phosphodiesterase That are Associated with Inherited Retinal Degenerative Disease

R. Hurwitz, C. Craft, W. Baehr, 1993 .

Individually made acrylic moist-chamber spectacles and pinhole glasses.

S. Pittler, J. Hallett, 1946, American journal of ophthalmology.

Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation

M. C. Butler, X. Mu, E. Swiezewska, 2020, iScience.

Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation.

J. Steibel, N. Khan, M. Kiupel, 2009, Investigative ophthalmology & visual science.

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

Jeremy Nathans, J. Nathans, S. Jacobson, 2001, Human mutation.

Genomic organization of the human rod photoreceptor cGMP-gated cation channel beta-subunit gene.

S. Pittler, R. Schoborg, M. Ardell, 2000, Gene.

Focus on molecules: rod photoreceptor cGMP-gated cation channel.

S. Sarfare, S. Pittler, 2007, Experimental eye research.

Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.

H. Dollfus, S. Pittler, E. Viégas-Péquignot, 1994, Genomics.

cDNA, gene structure, and chromosomal localization of human GAR1 (CNCG3L), a homolog of the third subunit of bovine photoreceptor cGMP-gated channel.

S. Pittler, E. Viégas-Péquignot, L. Oliveira, 1995, Genomics.

Mutations in PDE6A, the Gene Encoding the α-Subunit of Rod Photoreceptor Cgmp-Specific Phosphodiesterase, are Rare in Autosomal Recessive Retinitis Pigmentosa

A. Janecke, S. Pittler, A. Gal, 1997 .

MOLECULAR ANALYSIS OF THE HUMAN GARlGENE A Candidate Gene for Retinal Degeneration

S. Pittler, M. Ardell, 1995 .

Molecular Analysis of the Human GAR1 Gene

S. Pittler, M. Ardell, A. K. Makhija, 1995 .

Focus on molecules: rod cGMP phosphodiesterase type 6.

Marcel A. Ionita, S. Pittler, 2007, Experimental eye research.

A PDE6A promoter fragment directs transcription predominantly in the photoreceptor.

Y. Zhao, S. Pittler, R. E. Taylor, 2001, Biochemical and biophysical research communications.

The molecular genetics of retinal photoreceptor proteins involved in cGMP metabolism.

W. Baehr, S. Pittler, 1991, Progress in clinical and biological research.

Dynamic near-infrared imaging reveals transient phototropic change in retinal rod photoreceptors

Xincheng Yao, Rongwen Lu, Qiuxiang Zhang, 2013, Journal of biomedical optics.

Comparative intrinsic optical signal imaging of wild-type and mutant mouse retinas

Xincheng Yao, S. Pittler, Rongwen Lu, 2012, Optics express.

Overexpression of rod photoreceptor glutamic acid rich protein 2 (GARP2) increases gain and slows recovery in mouse retina

S. Sarfare, J. Messinger, S. Pittler, 2014, Cell Communication and Signaling.

Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1).

S. Scherer, L. Tsui, S. Pittler, 1996, Genomics.

Investigation of the hyper-reflective inner/outer segment band in optical coherence tomography of living frog retina.

C. Curcio, Xincheng Yao, D. Deretic, 2012, Journal of biomedical optics.

A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission

Tariq A. Akhtar, E. Swiezewska, S. Fliesler, 2023, Cell death & disease.

In vitro synthesis of rat brain hexokinase.

L. Kozak, S. Pittler, J. Wilson, 1985, Biochimica et biophysica acta.

The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility*

Hongwei Ma, Jianhua Xu, M. Elliott, 2016, The Journal of Biological Chemistry.

Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation.

J. Steibel, N. Khan, M. Kiupel, 2009, Investigative ophthalmology & visual science.

Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation–Effect of an ALG6 Modifier Variant

A. J. Roman, A. Cideciyan, S. Jacobson, 2024, International journal of molecular sciences.