Detalhe da pesquisa
1.
In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.
Nature
; 589(7843): 608-614, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33408413
2.
Evaluation of musculoskeletal phenotype of the G608G progeria mouse model with lonafarnib, pravastatin, and zoledronic acid as treatment groups.
Proc Natl Acad Sci U S A
; 117(22): 12029-12040, 2020 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32404427
3.
Cyclophilin B control of lysine post-translational modifications of skin type I collagen.
PLoS Genet
; 15(6): e1008196, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173582
4.
Alzheimer's disease-causing proline substitutions lead to presenilin 1 aggregation and malfunction.
EMBO J
; 34(22): 2820-39, 2015 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26438723
5.
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
PLoS Genet
; 12(7): e1006156, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27441836
6.
PrP-containing aggresomes are cytosolic components of an ER quality control mechanism.
J Cell Sci
; 129(19): 3635-3647, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27550517
7.
Cyclophilin B Deficiency Causes Abnormal Dentin Collagen Matrix.
J Proteome Res
; 16(8): 2914-2923, 2017 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28696707
8.
Cyclophilin-B Modulates Collagen Cross-linking by Differentially Affecting Lysine Hydroxylation in the Helical and Telopeptidyl Domains of Tendon Type I Collagen.
J Biol Chem
; 291(18): 9501-12, 2016 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26934917
9.
Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.
PLoS Genet
; 10(6): e1004465, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24968150
10.
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
Nat Genet
; 39(3): 359-65, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17277775
11.
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.
Hum Mutat
; 34(9): 1279-88, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23712425
12.
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
N Engl J Med
; 362(6): 521-8, 2010 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20089953
13.
Bone dysplasia in Hutchinson-Gilford progeria syndrome is associated with dysregulated differentiation and function of bone cell populations.
Aging Cell
; 22(9): e13903, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365004
14.
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
Hum Mutat
; 33(11): 1589-98, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22718341
15.
Effects of tissue hydration on nanoscale structural morphology and mechanics of individual Type I collagen fibrils in the Brtl mouse model of Osteogenesis Imperfecta.
J Struct Biol
; 180(3): 428-38, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23041293
16.
Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.
Hum Mol Genet
; 19(2): 223-34, 2010 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19846465
17.
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
Genet Med
; 14(5): 543-51, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22281939
18.
Genetic reduction of mTOR extends lifespan in a mouse model of Hutchinson-Gilford Progeria syndrome.
Aging Cell
; 20(9): e13457, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34453483
19.
A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndrome.
Nat Med
; 27(3): 536-545, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33707773
20.
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Cell Tissue Res
; 339(1): 59-70, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19862557