Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis
about
sameAs
Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channelDefective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisisEffects of pathological mutations on the stability of a conserved amino acid triad in retinoschisinRetinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complexClinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypesMolecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.Identification and correction of abnormal, incomplete and mispredicted proteins in public databasesProteomic profiling of human intraschisis cavity fluidMultiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.Regulation of retinoschisin secretion in Weri-Rb1 cells by the F-actin and microtubule cytoskeleton.R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis.X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype.Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing.Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.Identification and characterization of two mature isoforms of retinoschisin in murine retinaCog-Wheel Octameric Structure of RS1, the Discoidin Domain Containing Retinal Protein Associated with X-Linked RetinoschisisX-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.A cure for traffic jams: small molecule chaperones in the endoplasmic reticulum.Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.Retinoschisin, a new binding partner for L-type voltage-gated calcium channels in the retina.Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose.Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.Molecular chaperones and photoreceptor function.Circadian regulation of ion channels and their functions.R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma.X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.Phenotypic characterization of X-linked retinoschisis: Clinical, electroretinography, and optical coherence tomography variables.Three-dimensional spectral domain optical coherence tomography in X linked foveal retinoschisis.RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer.Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis.Retinoschisin Facilitates the Function of L-Type Voltage-Gated Calcium Channels.Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis
P2860
Q24311774-B49806CC-A109-45BE-92E0-124F92AD12DEQ28204024-A60C5073-4CEE-45BE-8422-827AFE985F51Q28208157-68273D26-4ABE-4967-8134-62B483A2A8B2Q28246192-BC4987AF-F28B-49CE-A9D0-C5E28CAD0F9EQ29465780-777AF27A-AF78-49E9-ADD9-B4B7CE93F38CQ29465813-2A69EB4A-25E7-40AA-83B3-4F7DDF9C6B0EQ30160010-A7DB3531-C564-499D-BBF8-97E3179B2FCAQ30352027-4747072D-4CCA-4673-9C87-EE99EE9F297DQ30384232-C27A34E1-D691-4894-BB1D-A64CEDAFED9FQ30847836-DD9DA65F-F7D4-4786-AD09-8E0EADACA19FQ33364282-F3FC2AED-A234-4DFA-A106-2676B3CB5A3DQ33601041-12CCB187-CBF9-4AA7-9467-5F2ED089936FQ33601521-756F12E5-408F-466F-BCF0-541700EDB32DQ33954586-0D887E3E-C780-4346-B5AB-C2AFF16D1FA5Q34081484-D425716A-9C5C-450F-AD2A-78F07A03CEDCQ34349489-F9312DB1-CF90-4AF2-8628-D51914407A3EQ34377968-9E48E13C-5785-45A7-B5CA-6E28417A6BDBQ35226801-E60D311B-4454-463E-98ED-26E64785CA3BQ35557049-BF76683E-1F62-45E6-9E39-65494DBB009FQ35689562-3311F3E0-E5FF-44C2-AFFD-80E2B9167FE1Q35751729-0292C31C-3B4A-4092-9EC6-2C44B5F1502FQ35904973-6650489B-66C5-4612-99DD-14515911E6BBQ35907087-954265B4-7F4A-43D1-A712-844A5A3D2B4FQ35915766-14DBDEC7-4203-41A8-BD08-F27DB46DD409Q36149125-35248A76-7236-4930-A702-6884DD84C52BQ36844127-0FFC17A5-1C11-491F-8766-5C72493CE55CQ37081943-7E9BA60A-DA46-44A9-A039-AD4388991BA4Q37118853-F0A21AA6-3C40-4DB9-8A2C-342884E148B4Q37157501-34384E1F-EC13-4828-8A65-5E8ACB20CA77Q37167901-D63FE080-2D8B-4929-8E5F-118FB93FC92AQ37528665-DF93AB4A-A31D-4F9E-93D0-8BFBB5ED1DD2Q37633339-4F8489A0-9768-41A0-BF77-15B7CE6C7822Q38153735-8D843DD6-D469-4333-9415-B9EA3F743CE2Q39409163-388905A6-5A85-4EBF-8AB5-2CC023E84BF4Q40447786-DE297D28-97F7-4AAB-A2EC-C0D314392D76Q40472865-99C609C6-ED67-40BE-A0A7-D1B1D813861AQ41294648-1C8410AC-9E90-4158-A9C3-0E939029E5D1Q41334192-EA4A95C0-2ADF-4DEB-B9B1-6E610B99C15EQ41843835-ECF8F417-401F-453F-AB7B-3348F386742CQ41983174-99FAD702-422F-4363-9DAE-CBC6F5175286
P2860
Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis
description
2002 nî lūn-bûn
@nan
2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Intracellular retention of mut ...... erlying X-linked retinoschisis
@ast
Intracellular retention of mut ...... erlying X-linked retinoschisis
@en
Intracellular retention of mut ...... erlying X-linked retinoschisis
@nl
type
label
Intracellular retention of mut ...... erlying X-linked retinoschisis
@ast
Intracellular retention of mut ...... erlying X-linked retinoschisis
@en
Intracellular retention of mut ...... erlying X-linked retinoschisis
@nl
prefLabel
Intracellular retention of mut ...... erlying X-linked retinoschisis
@ast
Intracellular retention of mut ...... erlying X-linked retinoschisis
@en
Intracellular retention of mut ...... erlying X-linked retinoschisis
@nl
P2093
P3181
P356
P1476
Intracellular retention of mut ...... erlying X-linked retinoschisis
@en
P2093
Caroline T Waters
Dorothy Trump
Karin Römisch
Tracy J Jakins
P304
P3181
P356
10.1093/HMG/11.24.3097
P407
P577
2002-11-01T00:00:00Z