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1.
A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria.
Mol Ther
; 28(2): 677-689, 2020 02 05.
Article
in English
| MEDLINE | ID: mdl-31810863
2.
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Int J Mol Sci
; 22(2)2021 Jan 12.
Article
in English
| MEDLINE | ID: mdl-33445488
3.
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Int J Mol Sci
; 22(11)2021 May 30.
Article
in English
| MEDLINE | ID: mdl-34070858
4.
Arc is a flexible modular protein capable of reversible self-oligomerization.
Biochem J
; 468(1): 145-58, 2015 May 15.
Article
in English
| MEDLINE | ID: mdl-25748042
5.
One ring closer to a closure: the crystal structure of the ES3 hydroxymethylbilane synthase intermediate.
FEBS J
; 291(3): 510-526, 2024 02.
Article
in English
| MEDLINE | ID: mdl-37863644
6.
Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function.
FEBS Open Bio
; 12(12): 2136-2146, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36115019
7.
High-affinity anti-Arc nanobodies provide tools for structural and functional studies.
PLoS One
; 17(6): e0269281, 2022.
Article
in English
| MEDLINE | ID: mdl-35671319
8.
Characterization of porphobilinogen deaminase mutants reveals that arginine-173 is crucial for polypyrrole elongation mechanism.
iScience
; 24(3): 102152, 2021 Mar 19.
Article
in English
| MEDLINE | ID: mdl-33665570
9.
Arc self-association and formation of virus-like capsids are mediated by an N-terminal helical coil motif.
FEBS J
; 288(9): 2930-2955, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33175445
10.
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
Biosci Rep
; 37(2)2017 04 30.
Article
in English
| MEDLINE | ID: mdl-28396517
11.
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
Biosci Rep
; 33(4)2013 Aug 08.
Article
in English
| MEDLINE | ID: mdl-23815679
12.
The peripheral binding of 14-3-3γ to membranes involves isoform-specific histidine residues.
PLoS One
; 7(11): e49671, 2012.
Article
in English
| MEDLINE | ID: mdl-23189152
13.
The binding of 14-3-3γ to membranes studied by intrinsic fluorescence spectroscopy.
FEBS Lett
; 585(8): 1163-8, 2011 Apr 20.
Article
in English
| MEDLINE | ID: mdl-21420405
14.
pH-dependent interaction of psychotropic drug with glycerophospholipid monolayers studied by the Langmuir technique.
Biophys Chem
; 152(1-3): 65-73, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20797816
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