Abad Morales, Víctor (Date of defense: 2017-02-03)
La sumoïlació és una modificació posttraduccional (PTM) que consisteix en la conjugació covalent i reversible d’una proteïna SUMO (Small ubiquitin-like modifier) al residu lisina d’una proteïna diana. ...
Borrego Domènech, Elena (Date of defense: 2021-02-26)
CERKL és un gen causant de Retinosi Pigmentària, una malaltia genètica de caràcter mendelià, malaltia caracteritzada per la mort dels fotoreceptors i que, amb el pas del temps, desemboca en ceguera. ...
Toulis, Vasileios (Date of defense: 2020-07-20)
The retina consists of several structured layers of highly specialized neurons that capture and process light stimuli enabling vision. Such a fine architecture turns retinal differentiation into an ...
Aísa Marín, Izarbe (Date of defense: 2022-05-13)
The transcription factor NR2E3 participates in photoreceptor cell fate determination as it functions as both transcriptional repressor of cone genes and activator of rod genes. Mutations in NR2E3 cause ...
Esquerdo Barragan, Mariona (Date of defense: 2017-05-26)
Protein post-translational modifications are regulatory mechanisms that cells use in response to intra- and extracellular signals. These signals modulate a panoply of conjugating enzymes that modify ...
Sánchez Bellver, Laura (Date of defense: 2023-12-15)
[eng] Ciliopathies encompass a broad group of heterogeneous inherited disorders associated with dysfunction of the cilium, a ubiquitous microtubule-based organelle that translates extracellular stimuli ...