Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations. [PDF]
Clin GenetPrasun P, Rasberry M.
europepmc +1 more source
Phosphatase Activities of a Highly Stable High-Molecular-Mass Multiprotein Complex Isolated from Different Organs of the Sea Cucumber <i>Paracaudina chilensis</i>. [PDF]
Int J Mol SciSoboleva SE +3 more
europepmc +1 more source
Modeling of Lowe Patient-Derived Induced Pluripotent Stem Cells Into Trabecular Meshwork. [PDF]
Am J OphthalmolSun Y +6 more
europepmc +1 more source
Identification of Two Novel Variants in <i>CRYGD</i> and <i>OCRL</i> Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome Sequencing. [PDF]
Hum MutatZhuang J +6 more
europepmc +1 more source
Emergent Nonlinearity in Active Molecular Chemotaxis. [PDF]
ACS NanoLu X, Sen A, Astumian RD.
europepmc +1 more source
PMSA as a potential modulator of calcineurin phosphatase activity. [PDF]
Sci RepCho E +5 more
europepmc +1 more source
Cold-adapted carboxylesterases from Alcanivoracaceae active with a wide range of synthetic polyesters. [PDF]
Appl Microbiol BiotechnolMa H +6 more
europepmc +1 more source
Whole-genome sequencing reveals an East Asian-specific rare variant of INPP5J associated with Alzheimer's disease. [PDF]
Transl PsychiatryKimura T +5 more
europepmc +1 more source
Inositol Thiophosphates as Inhibitors of Mammalian, Plant, and Fungal Phytases. [PDF]
ACS Chem BiolVasegh SE +9 more
europepmc +1 more source
Longitudinal Multimodal Assessment of Structure and Function in INPP5E-Related Retinopathy. [PDF]
Genes (Basel)Cusumano A +9 more
europepmc +1 more source