Biokimika eta Biologia Molekularra
Saila
University of Milan
Milán, ItaliaUniversity of Milan-ko ikertzaileekin lankidetzan egindako argitalpenak (16)
2023
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BioE3 identifies specific substrates of ubiquitin E3 ligases
Nature Communications, Vol. 14, Núm. 1
2021
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
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Neddylation inhibition ameliorates steatosis in NAFLD by boosting hepatic fatty acid oxidation via the DEPTOR-mTOR axis
Molecular Metabolism, Vol. 53
2020
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HuR/ELAVL1 drives malignant peripheral nerve sheath tumor growth and metastasis
The Journal of clinical investigation, Vol. 130, Núm. 7, pp. 3848-3864
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Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196
2019
2018
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Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement
Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500
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Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity
Journal of Bone and Mineral Research, Vol. 33, Núm. 8, pp. 1480-1488
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Parathyroid hormone resistance syndromes – Inactivating PTH/PTHrP signaling disorders (iPPSDs)
Best Practice and Research: Clinical Endocrinology and Metabolism, Vol. 32, Núm. 6, pp. 941-954
2016
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Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate
Scientific Reports, Vol. 6
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Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects
Clinical Epigenetics, Vol. 8, Núm. 1, pp. 1-12
2013
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Clinical utility gene card for: Pseudohypoparathyroidism
European Journal of Human Genetics, Vol. 21, Núm. 6
2012
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PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance
Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 12
2008
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Refining genetic associations in multiple sclerosis
The Lancet Neurology
1997
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Occurrence and clinical relevance of an interleukin-4 gene polymorphism in patients with multiple sclerosis
Journal of Neuroimmunology, Vol. 76, Núm. 1-2, pp. 189-192
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Tumor necrosis factor α and its receptors in relapsing-remitting multiple sclerosis
Journal of the Neurological Sciences, Vol. 152, Núm. 1, pp. 51-61