Search details
1.
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101120, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38469793
2.
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Am J Hum Genet
; 102(6): 1126-1142, 2018 06 07.
Article
in English
| MEDLINE | ID: mdl-29805043
3.
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Clin Genet
; 97(4): 567-575, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31997314
4.
The Proteasome System in Health and Disease.
Adv Exp Med Biol
; 1233: 55-100, 2020.
Article
in English
| MEDLINE | ID: mdl-32274753
5.
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
EMBO Mol Med
; 12(7): e11861, 2020 07 07.
Article
in English
| MEDLINE | ID: mdl-32500975
6.
The E3 Ubiquitin Ligases TRIM17 and TRIM41 Modulate α-Synuclein Expression by Regulating ZSCAN21.
Cell Rep
; 25(9): 2484-2496.e9, 2018 11 27.
Article
in English
| MEDLINE | ID: mdl-30485814
7.
The proteasome maturation protein POMP increases proteasome assembly and activity in psoriatic lesional skin.
J Dermatol Sci
; 88(1): 10-19, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28728908
Results
1 -
7
de 7
1
Next >
>>