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An Italian Multicenter Study for Application of a Diagnostic Algorithm in Autoantibody Testing.
- Published in:
- Annals of the New York Academy of Sciences, 2009, v. 1173, p. 124, doi. 10.1111/j.1749-6632.2009.04635.x
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- Publication type:
- Article
Sulfatase activities are regulated by the interaction of the sulfatase-modifying factor 1 with SUMF2.
- Published in:
- EMBO Reports, 2016, v. 17, n. 12, p. 1901, doi. 10.15252/embr.201570010
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- Publication type:
- Article
Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2.
- Published in:
- EMBO Reports, 2005, v. 6, n. 7, p. 655, doi. 10.1038/sj.embor.7400454
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- Article
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
- Published in:
- Human Genetics, 2001, v. 108, n. 1, p. 51, doi. 10.1007/s004390000440
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- Publication type:
- Article
Neoadjuvant Chemotherapy in Breast Cancer: Evaluation of the Impact on Surgical Outcomes and Prognosis.
- Published in:
- Cancers, 2024, v. 16, n. 13, p. 2332, doi. 10.3390/cancers16132332
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- Publication type:
- Article
Multiple Mechanisms Converging on Transcription Factor EB Activation by the Natural Phenol Pterostilbene.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2021, p. 1, doi. 10.1155/2021/7658501
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- Publication type:
- Article
Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients.
- Published in:
- Clinical Genetics, 1984, v. 25, n. 2, p. 191, doi. 10.1111/j.1399-0004.1984.tb00484.x
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- Publication type:
- Article
Telencephalic Embryonic Subtractive Sequences: A Unique Collection of Neurodevelopmental Genes.
- Published in:
- Journal of Neuroscience, 2005, v. 25, n. 33, p. 7586, doi. 10.1523/JNEUROSCI.0522-05.2005
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- Publication type:
- Article
Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 3, p. 376
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- Publication type:
- Article
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.
- Published in:
- 1999
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- Publication type:
- journal article
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.
- Published in:
- 1999
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- Publication type:
- journal article
Cell metabolism: Autophagy transcribed.
- Published in:
- Nature, 2014, v. 516, n. 7529, p. 40, doi. 10.1038/nature13939
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- Publication type:
- Article
Efficacy of a Combined Intracerebral and Systemic Gene Delivery Approach for the Treatment of a Severe Lysosomal Storage Disorder.
- Published in:
- Molecular Therapy, 2011, v. 19, n. 5, p. 860, doi. 10.1038/mt.2010.299
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- Publication type:
- Article
Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease.
- Published in:
- Molecular Therapy, 2007, v. 15, n. 3, p. 508, doi. 10.1038/sj.mt.6300074
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- Publication type:
- Article
864. Characterization of Transgenic Mice Over-Expressing Arylsulfatase A: Implications for Gene Therapy and Sulfatases Activation Mechanisms.
- Published in:
- Molecular Therapy, 2006, v. 13, p. S332, doi. 10.1016/j.ymthe.2006.08.950
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- Publication type:
- Article
209. Correction of Hunter Syndrome in the MPSII Mouse Model by AAV2/8-Mediated Gene Delivery.
- Published in:
- Molecular Therapy, 2006, v. 13, p. S81, doi. 10.1016/j.ymthe.2006.08.234
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- Publication type:
- Article
Amelioration of both Functional and Morphological Abnormalities in the Retina of a Mouse Model of Ocular Albinism Following AAV-Mediated Gene Transfer
- Published in:
- Molecular Therapy, 2005, v. 12, n. 4, p. 652, doi. 10.1016/j.ymthe.2005.06.001
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- Publication type:
- Article
435. Functional and Morphological Rescue of the Type I Ocular Albinism Murine Retina Following AAV-Mediated Gene Transfer
- Published in:
- 2005
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- Publication type:
- Abstract
250. Correction of Hunter Syndrome in the Ids-Knock-Out Mouse Model by r-AVV Mediated Gene Therapy
- Published in:
- 2005
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- Publication type:
- Abstract
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.
- Published in:
- Journal of Cell Biology, 2003, v. 163, n. 4, p. 777, doi. 10.1083/jcb.200304112
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- Publication type:
- Article
A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells.
- Published in:
- Scientific Data, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41597-019-0281-5
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- Publication type:
- Article
Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.17047
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- Publication type:
- Article
TFEB regulates murine liver cell fate during development and regeneration.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16300-x
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- Publication type:
- Article
Enhanced lysosomal degradation maintains the quiescent state of neural stem cells.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-13203-4
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- Publication type:
- Article
A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB.
- Published in:
- EMBO Journal, 2012, v. 31, n. 5, p. 1095, doi. 10.1038/emboj.2012.32
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- Publication type:
- Article
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders.
- Published in:
- EMBO Journal, 2010, v. 29, n. 21, p. 3607, doi. 10.1038/emboj.2010.237
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- Publication type:
- Article
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.
- Published in:
- EMBO Journal, 2007, v. 26, n. 10, p. 2443, doi. 10.1038/sj.emboj.7601695
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- Publication type:
- Article
The tripartite motif family identifies cell compartments.
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- EMBO Journal, 2001, v. 20, n. 9, p. 2140, doi. 10.1093/emboj/20.9.2140
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- Publication type:
- Article
Expression of a novel human sialidase encoded by the NEU2 gene.
- Published in:
- Glycobiology, 1999, v. 9, n. 12, p. 1313, doi. 10.1093/glycob/9.12.1313
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- Publication type:
- Article
Lysosome signaling controls the migration of dendritic cells.
- Published in:
- Science Immunology, 2017, v. 2, n. 16, p. 1, doi. 10.1126/sciimmunol.aak9573
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- Publication type:
- Article
TFEB Modulates p21/WAF1/CIP1 during the DNA Damage Response.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 5, p. 1186, doi. 10.3390/cells9051186
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- Publication type:
- Article
The TFEB-TGIF1 axis regulates EMT in mouse epicardial cells.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32855-3
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- Publication type:
- Article
A gene toolbox for monitoring autophagy transcription.
- Published in:
- Cell Death & Disease, 2021, v. 12, n. 11, p. 1, doi. 10.1038/s41419-021-04121-9
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- Publication type:
- Article
The awesome lysosome.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 2, p. 73, doi. 10.15252/emmm.201505966
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- Publication type:
- Article
Selective clearance of aberrant tau proteins and rescue of neurotoxicity by transcription factor EB.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 9, p. 1142, doi. 10.15252/emmm.201303671
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- Publication type:
- Article
New targets for old diseases: lessons from mucolipidosis type II.
- Published in:
- EMBO Molecular Medicine, 2013, v. 5, n. 12, p. 1801, doi. 10.1002/emmm.201303496
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- Publication type:
- Article
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.
- Published in:
- EMBO Molecular Medicine, 2013, v. 5, n. 5, p. 691, doi. 10.1002/emmm.201202176
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- Publication type:
- Article
A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.
- Published in:
- EMBO Molecular Medicine, 2013, v. 5, n. 5, p. 675, doi. 10.1002/emmm.201202083
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- Publication type:
- Article
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency.
- Published in:
- EMBO Molecular Medicine, 2013, v. 5, n. 3, p. 397, doi. 10.1002/emmm.201202046
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- Publication type:
- Article
Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG).
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 813, doi. 10.1038/sj.ejhg.5200887
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- Publication type:
- Article
Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 828, doi. 10.1038/sj.ejhg.5200376
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- Publication type:
- Article
A very high density microsatellite map (1 STR / 41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 406, doi. 10.1038/sj.ejhg.5200203
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- Publication type:
- Article
Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.
- Published in:
- 1997
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- Publication type:
- Correction notice
On-chip Fourier-transform spectrometer based on spatial heterodyning tuned by thermo-optic effect.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50947-x
- By:
- Publication type:
- Article
Solid-State Dewetting Dynamics of Amorphous Ge Thin Films on Silicon Dioxide Substrates.
- Published in:
- Nanomaterials (2079-4991), 2020, v. 10, n. 12, p. 2542, doi. 10.3390/nano10122542
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- Publication type:
- Article
Germanium-based integrated photonics from near- to mid-infrared applications.
- Published in:
- Nanophotonics (21928606), 2018, v. 7, n. 11, p. 1781, doi. 10.1515/nanoph-2018-0113
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- Publication type:
- Article
Kallmann syndrome.
- Published in:
- JAMA: Journal of the American Medical Association, 1993, v. 270, n. 22, p. 2713, doi. 10.1001/jama.1993.03510220069036
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- Publication type:
- Article
Multiple sulfatase deficiency with neonatal manifestation.
- Published in:
- Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/s13052-014-0086-2
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- Publication type:
- Article
EGR1 drives cell proliferation by directly stimulating TFEB transcription in response to starvation.
- Published in:
- PLoS Biology, 2023, v. 21, n. 3, p. 1, doi. 10.1371/journal.pbio.3002034
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- Publication type:
- Article
T. rex attacks the lysosome.
- Published in:
- Nature Immunology, 2012, v. 14, n. 1, p. 10, doi. 10.1038/ni.2497
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- Publication type:
- Article