Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene

ABSTRACT: Data from ProteomeXchange, PXD ID: PXD000307. File: 120611_ETP_Sibling1_3.mgf. From ProteomeXchange: {{i}} In this study, we investigated whether the phenotypic difference observed between the two siblings with an atypical variant of lattice corneal dystrophy type 1 (LCD type 1) caused by a single A546D substitution and a A546D/P551Q double substitution in TGFBIp, can be ascribed to (i), a difference in plaque proteomes (ii), altered proteolysis of TGFBIp or (iii), is a consequence of the P551Q amino acid substitution. Amyloid deposits were isolated from two corneal specimens with atypical LCD type 1 due to a A546D/P551Q mutation in TGFBI using laser capture microdissection and a subsequent analysis by liquid chromatography-tandem mass spectrometry (LC-MS/MS) ... {{/i}}

INSTRUMENT(S): Instrument

ORGANISM(S): Human_adenovirus_54,human_adenovirus_a,human_adenovirus_b,human_adenovirus_c,human_adenovirus_d,human_adenovirus_e,human_adenovirus_f,human_adenovirus_g,human_astrovirus,human_bocavirus,human_bocavirus_2,human_bocavirus_3,human_bocavirus_4,human_coronavirus_229e,human_coronavirus_hku1,human_coronavirus_nl63,human_coronavirus_oc43,human_cosavirus_a,human_cosavirus_b,human_cosavirus_d,human_cosavirus_e,human_enteric_coronavirus_4408,human_enterovirus_100,human_enterovirus_a,human_enterovirus_b,human_enterovirus_c,human_enterovirus_d,human_erythrovirus_v9,human_herpesvirus_1,human_herpesvirus_2,human_herpesvirus_3,human_herpesvirus_4_type_1,human_herpesvirus_4_type_2,human_herpesvirus_5,human_herpesvirus_6a,human_herpesvirus_6b,human_herpesvirus_7,human_herpesvirus_8_type_p,human_immunodeficiency_virus_1,human_immunodeficiency_virus_2,human_metapneumovirus,human_papillomavirus_fa75_ki88_03,human_papillomavirus_rtrx7,human_papillomavirus_type_10,human_papillomavirus_type_100,human_papillomavirus_type_101,human_papillomavirus_type_103,human_papillomavirus_type_104,human_papillomavirus_type_105,human_papillomavirus_type_108,human_papillomavirus_type_109,human_papillomavirus_type_112,human_papillomavirus_type_113,human_papillomavirus_type_16,human_papillomavirus_type_24,human_papillomavirus_type_26,human_papillomavirus_type_32,human_papillomavirus_type_34,human_papillomavirus_type_4,human_papillomavirus_type_41,human_papillomavirus_type_48,human_papillomavirus_type_49,human_papillomavirus_type_5,human_papillomavirus_type_50,human_papillomavirus_type_53,human_papillomavirus_type_60,human_papillomavirus_type_63,human_papillomavirus_type_6b,human_papillomavirus_type_7,human_papillomavirus_type_71,human_papillomavirus_type_88,human_papillomavirus_type_9,human_papillomavirus_type_92,human_papillomavirus_type_96,human_papillomavirus_type_98,human_papillomavirus_type_99,human_papillomavirus___1,human_papillomavirus___18,human_papillomavirus___2,human_papillomavirus___54,human_papillomavirus___61,human_papillomavirus___cand90,human_parainfluenza_virus_1,human_parainfluenza_virus_2,human_parainfluenza_virus_3,human_parechovirus,human_parvovirus_4,human_parvovirus_b19,human_picobirnavirus,human_respiratory_syncytial_virus,human_rhinovirus_a,human_rhinovirus_b,human_rhinovirus_c,human_tmev_like_cardiovirus,human_t_lymphotropic_virus_1,human_t_lymphotropic_virus_2,human_t_lymphotropic_virus_4, Human

DISEASE(S): Not Available

SUBMITTER: Poulsen ET, et al.  

PROVIDER: GPM11210023957 | GPMDB |

REPOSITORIES: GPMDB