Detalhe da pesquisa
1.
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
Am J Hum Genet
; 102(4): 676-684, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29576217
2.
Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.
J Biol Chem
; 294(18): 7445-7459, 2019 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30898877
3.
Ser-Phosphorylation of PCSK9 (Proprotein Convertase Subtilisin-Kexin 9) by Fam20C (Family With Sequence Similarity 20, Member C) Kinase Enhances Its Ability to Degrade the LDLR (Low-Density Lipoprotein Receptor).
Arterioscler Thromb Vasc Biol
; 39(10): 1996-2013, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31553664
4.
Abnormal expression of RNA polymerase II-associated proteins in muscle of patients with myofibrillar myopathies.
Histopathology
; 67(6): 859-65, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25891782
5.
Nuclear import of RNA polymerase II is coupled with nucleocytoplasmic shuttling of the RNA polymerase II-associated protein 2.
Nucleic Acids Res
; 41(14): 6881-91, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23723243
6.
ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.
Genome Biol
; 25(1): 19, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38225631
7.
Discovery of cell compartment specific protein-protein interactions using affinity purification combined with tandem mass spectrometry.
J Proteome Res
; 12(1): 272-81, 2013 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23157168
8.
The protein interaction network of the human transcription machinery reveals a role for the conserved GTPase RPAP4/GPN1 and microtubule assembly in nuclear import and biogenesis of RNA polymerase II.
Mol Cell Proteomics
; 9(12): 2827-39, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20855544
9.
Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.
HGG Adv
; 2(3): 100034, 2021 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047835
10.
High-resolution mapping of the protein interaction network for the human transcription machinery and affinity purification of RNA polymerase II-associated complexes.
Methods
; 48(4): 381-6, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19450687
11.
Use of site-specific protein-DNA photocrosslinking of purified complexes to analyze the topology of the RNA polymerase II transcription initiation complex.
Methods Mol Biol
; 543: 439-51, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19378180
12.
Genomic location of the human RNA polymerase II general machinery: evidence for a role of TFIIF and Rpb7 at both early and late stages of transcription.
Biochem J
; 409(1): 139-47, 2008 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17848138
13.
Photo-cross-linking of a purified preinitiation complex reveals central roles for the RNA polymerase II mobile clamp and TFIIE in initiation mechanisms.
Mol Cell Biol
; 24(3): 1122-31, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14729958
14.
RPAP1, a novel human RNA polymerase II-associated protein affinity purified with recombinant wild-type and mutated polymerase subunits.
Mol Cell Biol
; 24(16): 7043-58, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15282305
15.
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
Mol Brain
; 10(1): 13, 2017 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28407788
16.
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Nat Commun
; 6: 7623, 2015 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26151409
17.
Site-specific protein-DNA photocross-linking of purified complexes: topology of the RNA polymerase II transcription initiation complex.
Methods Enzymol
; 370: 701-12, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14712685
18.
Systematic analysis of the protein interaction network for the human transcription machinery reveals the identity of the 7SK capping enzyme.
Mol Cell
; 27(2): 262-274, 2007 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-17643375
19.
Ordered conformational changes in damaged DNA induced by nucleotide excision repair factors.
J Biol Chem
; 279(18): 19074-83, 2004 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-14981083