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1. Full Text Lysosomal storage disorders: Molecular basis and laboratory testing
by Filocamo, Mirella and Morrone, Amelia
Human Genomics, ISSN 1473-9542, 2011, Volume 5, Issue 3, pp. 156 - 169
Lysosomal storage disorders (LSDs) are a large group of more than 50 different inherited metabolic diseases which, in the great majority of cases, result from... 
Lysosomal Storage Diseases - diagnosis | Specimen Handling | Phenotype | Proteins - metabolism | Humans | Chorionic Villi Sampling | Lysosomal Storage Diseases - genetics | Lysosomal Storage Diseases - metabolism | Genotype | Prenatal Diagnosis - methods | Genetic Testing - methods | Polymorphism, Genetic
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2. Full Text Germline mutations in HRAS proto-oncogene cause Costello syndrome
by Niihori, Tetsuya and Matsubara, Yoichi and Kato, Kumi and Filocamo, Mirella and Ohashi, Hirofumi and Tanaka, Yukichi and Kurosawa, Kenji and Kure, Shigeo and Kawame, Hiroshi and Aoki, Yoko and Suzuki, Yoichi
Nature Genetics, ISSN 1061-4036, 10/2005, Volume 37, Issue 10, pp. 1038 - 1040
Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition... 
ONCOGENES | H-RAS | GENE | GENETICS & HEREDITY | PTPN11 | LEUKEMIA | NOONAN-SYNDROME | Amino Acid Sequence | Genetic Predisposition to Disease | Proto-Oncogene Proteins p21(ras) - genetics | Face - abnormalities | Humans | Molecular Sequence Data | Syndrome | Intellectual Disability - genetics | Cardiomyopathies - genetics | Neoplasms - genetics | Germ-Line Mutation | Female | Skin Abnormalities - genetics | Abnormalities, Multiple - genetics | Complications and side effects | Gene mutations | Physiological aspects | Research | Diagnosis | Mental retardation | Risk factors | Oncogenes
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3. Full Text Unfolded protein response in Gaucher disease: From human to Drosophila
by Maor, Gali and Rencus-Lazar, Sigal and Filocamo, Mirella and Steller, Hermann and Segal, Daniel and Horowitz, Mia
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 140 - 140
Background: In Gaucher disease (GD), resulting from mutations in the GBA gene, mutant beta-glucocerebrosidase (GCase) molecules are recognized as misfolded in... 
ERAD | Glucocerebrosidase | Gaucher disease | Parkinson's disease | UPR | MEDICINE, RESEARCH & EXPERIMENTAL | ASHKENAZI-JEWS | ER STRESS | LYSOSOMAL STORAGE | FABRY-DISEASE | SYNUCLEINOPATHIES | GLUCOCEREBROSIDASE GENE | GENETICS & HEREDITY | ENDOPLASMIC-RETICULUM | MUTATIONS | ASSOCIATION | PARKINSONS-DISEASE | Cell Line | Glucosylceramidase - genetics | Animals | Gaucher Disease - metabolism | Unfolded Protein Response - genetics | Humans | Endoplasmic Reticulum - metabolism | Glucosylceramidase - metabolism | Drosophila - metabolism | Gaucher Disease - pathology | Unfolded Protein Response - physiology | Gene mutations | Drosophila | Analysis | Models | Genetic aspects | Identification and classification | Gaucher's disease | Medical research | Mutation | Kinases | Protein folding | Metabolic disorders
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4. Full Text SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
by Zampieri, Stefania and Filocamo, Mirella and Pianta, Annalisa and Lualdi, Susanna and Gort, Laura and Coll, Maria Jose and Sinnott, Richard and Geberhiwot, Tarekegn and Bembi, Bruno and Dardis, Andrea
Human Mutation, ISSN 1059-7794, 02/2016, Volume 37, Issue 2, pp. 139 - 147
ABSTRACT Niemann–Pick Types A and B (NPA/B) diseases are autosomal recessive lysosomal storage disorders caused by the deficient activity of acid... 
lysosomal storage disorder | SMPD1 | acid sphingomyelinase | Niemann–Pick | Niemann-pick | Acid sphingomyelinase | Lysosomal storage disorder | B PATIENTS | ACID SPHINGOMYELINASE GENE | GENOTYPE/PHENOTYPE CORRELATIONS | BONE-MARROW | JAPANESE PATIENT | Niemann-Pick | NIEMANN-PICK-DISEASE | CLINICAL FINDINGS | JEWISH TYPE-A | GENETICS & HEREDITY | MISSENSE MUTATION | NUCLEOTIDE-SEQUENCE | Sphingomyelin Phosphodiesterase - genetics | Gene Expression | Niemann-Pick Disease, Type A - diagnosis | Genetic Association Studies | Exons | Introns | Humans | Open Reading Frames | RNA, Messenger - genetics | Niemann-Pick Disease, Type B - diagnosis | Databases, Genetic | Genotype | Niemann-Pick Disease, Type B - pathology | Niemann-Pick Disease, Type B - genetics | Genes, Recessive | Phenotype | RNA Splicing | Niemann-Pick Disease, Type A - pathology | Mutation | Niemann-Pick Disease, Type A - genetics | Enzymes | Databases | RNA | Analysis | Medical genetics | Genotype & phenotype | Genetic counseling | Genetic disorders
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5. Full Text Molecular analyses in pursuit of a diagnosis of Gaucher disease
by Filocamo, Mirella, PhD
Clinical Therapeutics, ISSN 0149-2918, 2009, Volume 31, Issue 3, pp. S177 - S178
Internal Medicine | Medical Education | PHARMACOLOGY & PHARMACY
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6. Full Text Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy
by Cesani, Martina and Lorioli, Laura and Grossi, Serena and Amico, Giulia and Fumagalli, Francesca and Spiga, Ivana and Filocamo, Mirella and Biffi, Alessandra
Human Mutation, ISSN 1059-7794, 01/2016, Volume 37, Issue 1, pp. 16 - 27
ABSTRACT Metachromatic leukodystrophy is a neurodegenerative disorder characterized by progressive demyelination. The disease is caused by variants in the ARSA... 
metachromatic leukodystrophy | ARSA | mutation | arylsulfatase A | saposin B | PSAP | Metachromatic leukodystrophy | Arylsulfatase A | Mutation | Saposin B | PSEUDODEFICIENCY ALLELE | ISOLATED PERIPHERAL NEUROPATHY | ACTIVATOR PROTEIN | MISSENSE MUTATIONS | ARYLSULFATASE-A GENE | SAPOSIN-B DEFICIENCY | GENETICS & HEREDITY | SPLICE-SITE MUTATION | LATE-INFANTILE FORM | JAPANESE PATIENTS | MOLECULAR-BASIS | Leukodystrophy, Metachromatic - genetics | Phenotype | Leukodystrophy, Metachromatic - diagnosis | Genetic Association Studies | Humans | Alleles | Databases, Genetic | Saposins - genetics | Genotype | Cerebroside-Sulfatase - genetics | Sphingolipidoses | Enzymes | Nervous system diseases | Genetic aspects | Genes | Proteins | Genetic disorders | Cells
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7. Full Text Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetes
by Iiritano, Stefania and Foti, Daniela and Liebhaber, Stephen A and Filocamo, Mirella and Chiefari, Eusebio and Paonessa, Francesco and Arcidiacono, Biagio and Brunetti, Antonio and Le Pera, Ilaria
Nature Communications, ISSN 2041-1723, 07/2010, Volume 1, Issue 4, pp. 1 - 7
Processed pseudogenes are non-functional copies of normal genes that arise by a process of mRNA retrotransposition. The human genome contains thousands of... 
CODING GENE | HUMAN GENOME | POLY(C)-BINDING PROTEINS | MULTIDISCIPLINARY SCIENCES | MOUSE OOCYTES | TRANSCRIPTION | RECEPTOR GENE | MESSENGER-RNA STABILITY | IDENTIFICATION | PROCESSED PSEUDOGENES | EXPRESSION | Cell Line | Diabetes Mellitus, Type 2 - genetics | Humans | Cells, Cultured | Gene Silencing | 3' Untranslated Regions - genetics | Molecular Sequence Data | Reverse Transcriptase Polymerase Chain Reaction | Antigens, CD - genetics | HMGA Proteins - genetics | Antigens, CD - metabolism | HMGA Proteins - metabolism | Blotting, Northern | Pseudogenes - genetics | Animals | Insulin Resistance - physiology | Models, Biological | Receptor, Insulin - genetics | HEK293 Cells | Insulin Resistance - genetics | Receptor, Insulin - metabolism | Electrophoretic Mobility Shift Assay | Mice | HeLa Cells
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8. Norrbottnian clinical variant of Gaucher disease in Southern Italy
by Sestito, Simona and Filocamo, Mirella and Ceravolo, Ferdinando and Falvo, Francesca and Grisolia, Michele and Moricca, Maria Teresa and Cantaffa, Renato and Grossi, Serena and Strisciuglio, Pietro and Concolino, Daniela
Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 507 - 511
The Norrbottnian type of Gaucher disease (GD), as described many years ago, is due to a unique neuronopathic variant (c.1448T4G; L444P) that may have appeared... 
EXPERIENCE | ENZYME REPLACEMENT THERAPY | INFUSION THERAPY | HOMOZYGOTES | MUTATION | GENETICS & HEREDITY | Humans | Middle Aged | Gaucher Disease - epidemiology | Genotype | Male | Sweden - epidemiology | Phenotype | Gaucher Disease - genetics | beta-Glucosidase - genetics | Age of Onset | Adult | Female | Gaucher Disease - physiopathology | Italy - epidemiology
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9. Full Text Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know
by Filocamo, Mirella and Tomanin, Rosella and Bertola, Francesca and Morrone, Amelia
Italian journal of pediatrics, ISSN 1720-8424, 11/2018, Volume 44, Issue Suppl 2, pp. 129 - 45
Mucopolysaccharidoses (MPS) are rare inherited disorders caused by a deficit of the lysosomal hydrolases involved in the degradation of mucopolysaccharides,... 
Laboratory tests | Genotype-phenotype relationship | Glycosaminoglycans | Lysosomal storage disorders | Pseudodeficiency | Mucopolysaccharides | Molecular analysis | Genetic counselling | SANFILIPPO-SYNDROME | PSEUDODEFICIENCY ALLELE | ALPHA-L-IDURONIDASE | IDENTIFICATION | SULFAMIDASE GENE | POINT MUTATIONS | HUNTER-SYNDROME | MORQUIO-DISEASE | GM1 GANGLIOSIDOSIS | BETA-GALACTOSIDASE | PEDIATRICS | Mucopolysaccharidoses - diagnosis | Hydrolases - genetics | Glycosaminoglycans - metabolism | Mucopolysaccharidoses - metabolism | Humans | Mucopolysaccharidoses - genetics | Child | Urine | Enzymes | Laboratories | Genomics | Genes | Lysosomes | Mucopolysaccharidosis | Patients | Hereditary diseases | Enzymatic activity | Diagnosis | Mutation
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10. Full Text Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase
by Bendikov-Bar, Inna and Maor, Gali and Filocamo, Mirella and Horowitz, Mia
Blood Cells, Molecules and Diseases, ISSN 1079-9796, 02/2013, Volume 50, Issue 2, pp. 141 - 145
Gaucher disease (GD) is characterized by accumulation of glucosylceramide in lysosomes due to mutations in the gene encoding the lysosomal hydrolase... 
ERAD | Glucocerebrosidase | Gaucher disease | Ambroxol | SUBSTRATE REDUCTION | CHEMICAL CHAPERONES | ACID-BETA-GLUCOSIDASE | N370S MUTANT | ISOFAGOMINE | IDENTIFICATION | FIBROBLASTS | GAUCHER-DISEASE | SMALL-MOLECULE CHAPERONES | INHIBITORS | HEMATOLOGY | Ambroxol - pharmacology | Glucosylceramidase - chemistry | Ambroxol - therapeutic use | Fibroblasts - enzymology | Glucosylceramidase - genetics | Off-Label Use | Humans | Lysosomes - enzymology | Ambroxol - adverse effects | Protein Transport - drug effects | Enzyme Stability - drug effects | Gaucher Disease - pathology | Dose-Response Relationship, Drug | Protein Folding - drug effects | Drug Evaluation, Preclinical | Gaucher Disease - drug therapy | Lysosomes - drug effects | Enzyme Replacement Therapy | Cells, Cultured - drug effects | Endoplasmic Reticulum - physiology | Combined Modality Therapy | Cells, Cultured - enzymology | Glucosylceramidase - therapeutic use | Fibroblasts - drug effects | Glucosylceramidase - drug effects | Ambroxol - administration & dosage | Skin | Primary Cell Culture | Enzymes | Hydrolases | Nervous system diseases
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11. Full Text Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes
by Lugowska, A and Hetmanczyk-Sawicka, K and Iwanicka-Nowicka, R and Fogtman, A and Ciesla, J and Purzycka-Olewiecka, JK and Sitarska, D and Ploski, R and Filocamo, M and Lualdi, S and Bednarska-Makaruk, M and Koblowska, M
SCIENTIFIC REPORTS, ISSN 2045-2322, 04/2019, Volume 9, Issue 1, pp. 6060 - 14
Gaucher disease (GD) is a rare inherited metabolic disease caused by pathogenic variants in the GBA1 gene. So far, the pathomechanism of GD was investigated... 
MN1 | TRANSLOCATION | GLUCOSYLSPHINGOSINE | HEMATOPOIESIS | BIOMARKER | ABNORMALITIES | MULTIDISCIPLINARY SCIENCES | PHENOTYPE | ELEVATION | LYSOSOMAL STORAGE | CHEMOKINE | Niemann-Pick disease | Animal models | Antiinflammatory agents | Cell survival | Immune response | AKT protein | Gene expression | 1-Phosphatidylinositol 3-kinase | Signal transduction | Molecular modelling | DNA microarrays | Interleukin 1 | Fibroblasts | Skin | Metabolic disorders | Gaucher's disease
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12. Full Text Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
by Santorelli, Filippo Maria and Garavaglia, Barbara and Cardona, Francesco and Nardocci, Nardo and Bernardina, Bernardo Dalla and Sartori, Stefano and Suppiej, Agnese and Bertini, Enrico and Claps, Dianela and Battini, Roberta and Biancheri, Roberta and Filocamo, Mirella and Pezzini, Francesco and Simonati, Alessandro
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, p. 19
Background: To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the... 
NCL Genes | Italy | Childhood NCL | Epidemiology | MEDICINE, RESEARCH & EXPERIMENTAL | CLN1 GENE | WEST | BATTEN-DISEASE | PATIENT | MUTATIONS | Molecular Epidemiology | Humans | Female | Italy - epidemiology | Male | Child | Neuronal Ceroid-Lipofuscinoses - epidemiology | Cohort Studies
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13. Full Text Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations
by Severino, Mariasavina and Lualdi, Susanna and Fiorillo, Chiara and Striano, Pasquale and De Toni, Teresa and Peluso, Silvio and De Michele, Giuseppe and Rossi, Andrea and Filocamo, Mirella and Bruno, Claudio
Journal of Neurology, ISSN 0340-5354, 6/2018, Volume 265, Issue 6, pp. 1419 - 1425
Epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) is a rare channelopathy due to KCNJ10 mutations. So far, only mild cerebellar... 
Diffusion-weighted imaging | Neurosciences | KCNJ10 | Intramyelinic edema | Channelopathy | EAST syndrome | Brain MRI | Neuroradiology | Astrocytopathy | Frameshift variants | Neurology | Medicine & Public Health | Kir4.1 | Whole exome sequencing | SeSAME syndrome | CYSTS | EAST/SESAME SYNDROME | SENSORINEURAL DEAFNESS | RECTIFYING K+ CHANNEL | ATAXIA | CLINICAL NEUROLOGY | TUBULOPATHY | POTASSIUM | MEGALENCEPHALIC LEUKOENCEPHALOPATHY | BRAIN | Brain | Usage | Care and treatment | Magnetic resonance imaging | Analysis | Abnormalities | Exome sequencing | Research | Mutation (Biology) | Hypoplasia | Cerebellum | Neuroimaging | Edema | Deafness | Spinal cord | Potassium channels (inwardly-rectifying) | Brain stem | Epilepsy | Homeostasis | Substantia alba | Atrophy | Ataxia | Mutation
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14. Full Text ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: A clinical, biochemical and molecular study
by Filosto, Massimiliano and Aureli, Massimo and Castellotti, Barbara and Rinaldi, Fabrizio and Schiumarini, Domitilla and Valsecchi, Manuela and Lualdi, Susanna and Mazzotti, Raffaella and Pensato, Viviana and Rota, Silvia and Gellera, Cinzia and Filocamo, Mirella and Padovani, Alessandro
European Journal of Human Genetics, ISSN 1018-4813, 11/2016, Volume 24, Issue 11, pp. 1578 - 1583
ASAH1 gene encodes for acid ceramidase that is involved in the degradation of ceramide into sphingosine and free fatty acids within lysosomes. ASAH1 variants... 
SPINAL MUSCULAR-ATROPHY | CERAMIDASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | NEURONS | MUTATIONS | CULTURE | Muscular Atrophy, Spinal - diagnosis | Acid Ceramidase - genetics | Humans | Cells, Cultured | Mutation, Missense | Pregnancy | Homozygote | Muscular Atrophy, Spinal - genetics | Phenotype | Epilepsies, Myoclonic - diagnosis | Adolescent | Adult | Female | Acid Ceramidase - metabolism | Epilepsies, Myoclonic - genetics | Siblings | Disease | Epilepsy | Diagnostic tests | Lysosomes | Lipids | Spinal muscular atrophy | Amino acid substitution | Genotype & phenotype | Ceramide | Fibroblasts | Genetics | Degeneration | Children | Age | Seizures | Enzymes | Phenotypes | Neuromuscular diseases | Myoclonus | EEG | Metabolism | Ceramidase | Patients | Fatty acids | Mutation | Index Medicus
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15. Full Text The RD-Connect Registry & Biobank Finder: A tool for sharing aggregated data and metadata among rare disease researchers
by Gainotti, Sabina and Torreri, Paola and Wang, Chiuhui Mary and Reihs, Robert and Mueller, Heimo and Heslop, Emma and Roos, Marco and Badowska, Dorota Mazena and De Paulis, Federico and Kodra, Yllka and Carta, Claudio and Martìn, Estrella Lopez and Miller, Vanessa Rangel and Filocamo, Mirella and Mora, Marina and Thompson, Mark and Rubinstein, Yaffa and Posada De La Paz, Manuel and Monaco, Lucia and Lochmüller, Hanns and Taruscio, Domenica
European Journal of Human Genetics, ISSN 1018-4813, 05/2018, Volume 26, Issue 5, pp. 631 - 643
In rare disease (RD) research, there is a huge need to systematically collect biomaterials, phenotypic, and genomic data in a standardized way and to make them... 
DIAGNOSIS | NETWORK | NEED | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | CHALLENGES | HUMAN PHENOTYPE ONTOLOGY | Rare Diseases - genetics | Rare Diseases - blood | Genomics | Humans | Computational Biology | Metadata | Rare Diseases - epidemiology | Patients | Information Dissemination | Biological Specimen Banks | Biomedical Research | Registries | Databases, Factual | Databases | Researchers | Research | Bioinformatics | Biomaterials
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