Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein
about
A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosaDominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acidsDistribution of ELOVL4 in the Developing and Adult Mouse Brain.Gene expression profiling and real-time PCR analyses identify novel potential cancer-testis antigens in multiple myeloma.Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disksRetinal ultrastructure of murine models of dry age-related macular degeneration (AMD).Inner retina remodeling in a mouse model of stargardt-like macular dystrophy (STGD3).Retinal very long-chain PUFAs: new insights from studies on ELOVL4 proteinElovanoids are novel cell-specific lipid mediators necessary for neuroprotective signaling for photoreceptor cell integrityLipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration.Congenital macular dystrophy, corpus callosum agenesis, hippocampi hypoplasia--a novel neuro-ophthalmic syndrome: case report.Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degenerationRole of long-chain and very-long-chain polyunsaturated fatty acids in macular degenerations and dystrophiesGenetics and molecular pathology of Stargardt-like macular degeneration.Identification of a promoter for the human C1Q-tumor necrosis factor-related protein-5 gene associated with late-onset retinal degeneration.Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease.Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal deathA Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholinesRole of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration.Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy.DHA does not protect ELOVL4 transgenic mice from retinal degeneration.Elovl4 5-bp deletion knock-in mouse model for Stargardt-like macular degeneration demonstrates accumulation of ELOVL4 and lipofuscinIn vivo effect of mutant ELOVL4 on the expression and function of wild-type ELOVL4.Mouse Models of Stargardt 3 Dominant Macular DegenerationHetero-oligomeric interactions of an ELOVL4 mutant protein: implications in the molecular mechanism of Stargardt-3 macular dystrophy.Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival.ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.Errors in protein synthesis increase the level of saturated fatty acids and affect the overall lipid profiles of yeast
P2860
Q24297596-965B3FA7-3D1C-4A5A-8229-A990130AE40AQ24309305-15CBFFF7-C1FB-493A-B942-641E5B1932F3Q24642158-0777D65E-2B7D-48EC-87AA-42C7A8C64D51Q28592642-FAAB9DB0-A012-4ADF-9820-20281B3FB592Q33619349-66BBB9C0-58EE-42B2-B886-584C69FCBADFQ33691683-19E3D3DF-A2ED-4146-9F07-43458BB3DC7EQ33761007-E3434BED-BFC1-48A1-976C-3B226EDFC8FBQ33787737-B94D77F1-F7AD-4CA2-B777-AAA48E64CEFFQ33844987-4C4221B7-E53A-4A3D-BCCE-AA1CD3979B5FQ33902007-01BEDC70-DEE5-4FC3-8B1D-2B365055795DQ33902944-F1F97085-D431-42DC-A6A3-07639704922FQ33932466-76AA3254-E1CC-424F-A848-138E4CE1EC60Q33990722-C627B37E-B344-4E5D-ACB3-0A552FE73E52Q34157723-F4C728CF-EFA7-4326-A28C-0ECCAA680C69Q34334822-F3CAF3BE-5E7A-4238-9F47-CA5988915EA5Q34691651-7B15A6A4-6005-436E-862B-96D0AD304458Q34701967-E73ED071-9A62-4E64-AAB1-432D26547126Q34955833-5054CB28-5B3D-44EF-8580-BA90DDF78F2FQ35568316-78855B2B-EFE1-481C-AD74-9C03F1A81C67Q35729216-44A013CB-DD6A-4D69-ABB9-B424D9682C79Q36282555-3B97A895-3E79-46A5-B262-706F741A7F70Q36729726-2DB31941-C15F-4DF2-99C7-1E15BC2A9E3AQ36747427-457D0E05-9AE5-45D5-81F5-BABEC356CBF8Q37230081-0E0AAFE8-DD84-443E-A4B4-D865B8E2EE83Q37438794-619B0CFA-86E9-4B6B-A6BE-363656A8767AQ37727071-59C78877-2D09-41F0-808E-CBF38303C8DFQ38596864-CCBB6966-42E8-4B46-A837-5D8B657C0244Q41234344-83E413D4-A1FE-430F-96DA-237B197DD8CDQ42957838-E79D4E04-194A-4E75-855D-686BB9AF24F5Q53664366-77D7AEDC-2E46-4856-A97B-DE02605D4B29Q58701719-CB7C7BB1-6274-4B20-9734-926E3A55D232
P2860
Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein
description
2004 nî lūn-bûn
@nan
2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Atrophic macular degeneration ...... ular misrouting of the protein
@ast
Atrophic macular degeneration ...... ular misrouting of the protein
@en
Atrophic macular degeneration ...... ular misrouting of the protein
@nl
type
label
Atrophic macular degeneration ...... ular misrouting of the protein
@ast
Atrophic macular degeneration ...... ular misrouting of the protein
@en
Atrophic macular degeneration ...... ular misrouting of the protein
@nl
prefLabel
Atrophic macular degeneration ...... ular misrouting of the protein
@ast
Atrophic macular degeneration ...... ular misrouting of the protein
@en
Atrophic macular degeneration ...... ular misrouting of the protein
@nl
P2093
P1433
P1476
Atrophic macular degeneration ...... ular misrouting of the protein
@en
P2093
Debra A Thompson
Monica M Jablonski
Pamela S Lagali
Paul A Sieving
Paul W Wong
Radha Ayyagari
Rajesh Ambasudhan
XiaoFei Wang
P304
P356
10.1016/J.YGENO.2003.10.004
P407
P577
2004-04-01T00:00:00Z