[HTML][HTML] OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses
LM Fuentealba, H Pizarro, MP Marzolo - Biomolecules, 2024 - mdpi.com
Lowe Syndrome (LS) is a rare X-linked disorder characterized by renal dysfunction,
cataracts, and several central nervous system (CNS) anomalies. The mechanisms …
cataracts, and several central nervous system (CNS) anomalies. The mechanisms …
Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts
Lowe syndrome, a rare X-linked multisystem disorder presenting with major abnormalities in
the eyes, kidneys, and central nervous system, is caused by mutations in OCRL gene …
the eyes, kidneys, and central nervous system, is caused by mutations in OCRL gene …
Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome
Objectives: Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM#
309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular …
309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular …
OCRL1 Regulates the Endocytic Trafficking of ApoER2 and Reelin Signaling
LMF Pérez - 2024 - search.proquest.com
Lowe Syndrome is a severe disorder characterized by renal, ocular, and neurological signs.
Mutations in the gene encoding the OCRL1 phosphatase are recognized as responsible for …
Mutations in the gene encoding the OCRL1 phosphatase are recognized as responsible for …