Galactosialidosis: historic aspects and overview of investigated and emerging treatment options

Role of chaperone-mediated autophagy in metabolism

(2016) Inmaculada Tasset et al.   FEBS Journal

Proteomic Profiling of Cardiomyocyte-Specific Cathepsin A Overexpression Links Cathepsin A to the Oxidative Stress Response

(2016) Agnese Petrera et al.   JOURNAL OF PROTEOME RESEARCH

Cathepsin A inhibition attenuates myocardial infarction-induced heart failure on the functional and proteomic levels

(2016) Agnese Petrera et al.   Journal of Translational Medicine

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

(2015) Hanan E. Shamseldin et al.   GENOME BIOLOGY

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

(2014) Carlos E. Prada et al.   European Journal of Medical Genetics

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus

(2014) L. Canafoglia et al.   NEUROLOGY

Serine Carboxypeptidase SCPEP1 and Cathepsin A Play Complementary Roles in Regulation of Vasoconstriction via Inactivation of Endothelin-1

(2014) Xuefang Pan et al.   PLoS Genetics

Lysosomal multienzyme complex: pros and cons of working together

(2013) Erik J. Bonten et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Galactosialidosis: review and analysis of CTSA gene mutations

(2013) Anna Caciotti et al.   Orphanet Journal of Rare Diseases

Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly

(2012) Anna Lehman et al.   MOLECULAR GENETICS AND METABOLISM

Preclinical Dose-Finding Study With a Liver-Tropic, Recombinant AAV-2/8 Vector in the Mouse Model of Galactosialidosis

(2011) Huimin Hu et al.   MOLECULAR THERAPY

Heterodimerization of the Sialidase NEU1 with the Chaperone Protective Protein/Cathepsin A Prevents Its Premature Oligomerization

(2009) Erik J. Bonten et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Enzymatic Activity of Lysosomal Carboxypeptidase (Cathepsin) A Is Required for Proper Elastic Fiber Formation and Inactivation of Endothelin-1

(2008) Volkan Seyrantepe et al.   CIRCULATION

Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria

(2008) Niklas Darin et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A Brazilian galactosialidosis patient given renal transplantation: A case report

(2008) A. Kiss et al.   JOURNAL OF INHERITED METABOLIC DISEASE