TY  - JOUR
AU  - Martin-Higueras, C.
AU  - Torres, A.
AU  - Salido, E.
T1  - Molecular therapy of primary hyperoxaluria
LA  - eng
PY  - 2017
SP  - 481
EP  - 489
T2  - Journal of Inherited Metabolic Disease
SN  - 1573-2665
VL  - 40
IS  - 4
PB  - Springer Netherlands
AB  - During the last few decades, the molecular understanding of the mechanisms involved in primary hyperoxalurias (PHs) has set the stage for novel therapeutic approaches. The availability of PH mouse models has facilitated preclinical studies testing innovative treatments. PHs are autosomal recessive diseases where the enzymatic deficit plays a central pathogenic role. Thus, molecular therapies aimed at restoring such deficit or limiting the consequences of the metabolic derangement could be envisioned, keeping in mind the specific challenges posed by the cell-autonomous nature of the deficiency. Various molecular approaches like enzyme replacement, substrate reduction, pharmacologic chaperones, and gene and cell therapies have been explored in cells and mouse models of disease. Some of these proof-of-concept studies have paved the way to current clinical trials on PH type 1, raising hopes that much needed treatments will become available for this severe inborn error of metabolism.
DO  - 10.1007/S10545-017-0045-3
UR  - https://portalciencia.ull.es/documentos/5e39b7dd2999523aa927171c
DP  - Dialnet - Portal de la Investigación
ER  -