|Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase|
V Ramamurthy, GA Niemi, TA Reh, JB Hurley
Proceedings of the National Academy of Sciences 101 (38), 13897-13902, 2004
|Topology of the integral membrane form of Escherichia coli SecA protein reveals multiple periplasmically exposed regions and modulation by ATP binding|
V Ramamurthy, D Oliver
Journal of Biological Chemistry 272 (37), 23239-23246, 1997
|Rod photoreceptor differentiation in fetal and infant human retina|
A Hendrickson, K Bumsted-O'Brien, R Natoli, V Ramamurthy, D Possin, ...
Experimental eye research 87 (5), 415-426, 2008
|Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone–rod dystrophy|
CL Tucker, SC Woodcock, RE Kelsell, V Ramamurthy, DM Hunt, ...
Proceedings of the National Academy of Sciences 96 (16), 9039-9044, 1999
|Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone–rod dystrophy|
SE Wilkie, RJ Newbold, E Deery, CE Walker, I Stinton, V Ramamurthy, ...
Human molecular genetics 9 (20), 3065-3073, 2000
|Interactions within the coiled-coil domain of RetGC-1 guanylyl cyclase are optimized for regulation rather than for high affinity|
V Ramamurthy, C Tucker, SE Wilkie, V Daggett, DM Hunt, JB Hurley
Journal of Biological Chemistry 276 (28), 26218-26229, 2001
|Identification of a region of interaction between Escherichia coli SecA and SecY proteins|
S Snyders, V Ramamurthy, D Oliver
Journal of Biological Chemistry 272 (17), 11302-11306, 1997
|AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins|
V Ramamurthy, M Roberts, F van den Akker, G Niemi, TA Reh, JB Hurley
Proceedings of the National Academy of Sciences 100 (22), 12630-12635, 2003
|Zebrafish rx3 and mab21l2 are required during eye morphogenesis|
BN Kennedy, GW Stearns, VA Smyth, V Ramamurthy, F van Eeden, ...
Developmental biology 270 (2), 336-349, 2004
|Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness|
S Kmoch, J Majewski, V Ramamurthy, S Cao, S Fahiminiya, H Ren, ...
Nature communications 6 (1), 5614, 2015
|Loss of MPC1 reprograms retinal metabolism to impair visual function|
A Grenell, Y Wang, M Yam, A Swarup, TL Dilan, A Hauer, JD Linton, ...
Proceedings of the National Academy of Sciences 116 (9), 3530-3535, 2019
|The Musashi 1 controls the splicing of photoreceptor-specific exons in the vertebrate retina|
D Murphy, B Cieply, R Carstens, V Ramamurthy, P Stoilov
PLoS genetics 12 (8), e1006256, 2016
|The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells|
LT Kirschman, S Kolandaivelu, JM Frederick, L Dang, AFX Goldberg, ...
Human molecular genetics 19 (6), 1076-1087, 2010
|AIPL1, a protein associated with childhood blindness, interacts with α-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly|
S Kolandaivelu, J Huang, JB Hurley, V Ramamurthy
Journal of Biological Chemistry 284 (45), 30853-30861, 2009
|Nucleotide binding activity of seca homodimer is conformationally regulated by temperature and altered byprld and azi mutations|
M Schmidt, H Ding, V Ramamurthy, I Mukerji, D Oliver
Journal of Biological Chemistry 275 (20), 15440-15448, 2000
|Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis|
CA Ku, VA Chiodo, SL Boye, AFX Goldberg, T Li, WW Hauswirth, ...
Human molecular genetics 20 (23), 4569-4581, 2011
|Bardet–Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons|
TL Dilan, RK Singh, T Saravanan, A Moye, AFX Goldberg, P Stoilov, ...
Human Molecular Genetics 27 (2), 283-294, 2018
|Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects|
CL Tucker, V Ramamurthy, AL Pina, M Loyer, S Dharmaraj, Y Li, ...
Mol Vis 10, 297-303, 2004
|Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa|
D Murphy, R Singh, S Kolandaivelu, V Ramamurthy, P Stoilov
Molecular and cellular biology 35 (10), 1860-1870, 2015
|RAS-converting enzyme 1-mediated endoproteolysis is required for trafficking of rod phosphodiesterase 6 to photoreceptor outer segments|
JR Christiansen, S Kolandaivelu, MO Bergo, V Ramamurthy
Proceedings of the National Academy of Sciences 108 (21), 8862-8866, 2011