Isabella Ceccherini Selected Research

Congenital central hypoventilation syndrome

1/2022	Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene.
1/2017	Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
3/2014	Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.
2/2013	Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.
9/2012	The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.
1/2012	In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins.
9/2011	Toward a therapeutic strategy for polyalanine expansions disorders: in vivo and in vitro models for drugs analysis.
1/2008	Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.
1/2007	Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions.
9/2006	Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.

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Isabella Ceccherini Research Topics

Disease

12	Congenital central hypoventilation syndrome 01/2022 - 07/2005
12	Alexander Disease (Alexander's Disease) 12/2021 - 01/2008
9	Neuroblastoma 11/2021 - 03/2002
8	Inflammation (Inflammations) 04/2021 - 02/2013
7	Fever (Fevers) 01/2021 - 03/2005
5	autosomal dominant familial Periodic fever 01/2021 - 03/2006
5	Hirschsprung Disease (Hirschsprung's Disease) 01/2019 - 02/2007
4	Neoplasms (Cancer) 11/2021 - 08/2015
4	Cryopyrin-Associated Periodic Syndromes 01/2021 - 11/2009
4	Hypercapnia 01/2017 - 09/2006
4	Hypoxia (Hypoxemia) 01/2017 - 09/2006
3	Autoimmune Lymphoproliferative Syndrome 01/2022 - 11/2021
3	Agammaglobulinemia (Hypogammaglobulinemia) 10/2021 - 01/2017
2	Arthritis (Polyarthritis) 11/2021 - 08/2019
2	Stroke (Strokes) 01/2021 - 11/2020
2	Mevalonate Kinase Deficiency 01/2021 - 11/2009
2	Lymphadenitis (Adenitis) 01/2021 - 01/2017
2	Familial Mediterranean Fever (Periodic Disease) 01/2021 - 11/2009
2	Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction) 01/2021 - 01/2016
2	Aphthous Stomatitis (Aphthous Ulcer) 01/2021 - 08/2019
2	Inborn Genetic Diseases (Disease, Hereditary) 11/2020 - 04/2008
2	Sudden Infant Death (SID) 01/2020 - 12/2008
2	Breast Neoplasms (Breast Cancer) 01/2019 - 05/2016
2	Dysarthria (Spastic Dysarthria) 01/2019 - 01/2013
2	Hereditary Autoinflammatory Diseases 01/2018 - 11/2009
2	Necrosis 10/2017 - 06/2013
2	Astrocytoma (Pilocytic Astrocytoma) 05/2013 - 09/2012
1	Carcinogenesis 03/2022
1	Splenomegaly 01/2022
1	Arthralgia (Joint Pain) 01/2022
1	Immunoglobulin G4-Related Disease 01/2022
1	Anemia 01/2022
1	Cartilage-hair hypoplasia 01/2022
1	Membranous Glomerulonephritis (Membranous Nephropathy) 01/2022
1	Proteinuria 01/2022
1	Bone Marrow Failure Disorders 01/2022
1	Juvenile Arthritis (Juvenile Idiopathic Arthritis) 11/2021
1	Autoimmune Hemolytic Anemia (Cold Agglutinin Disease) 11/2021
1	Cytopenia 11/2021
1	Reinfection 10/2021
1	Lymphadenopathy 10/2021
1	Enterocolitis 04/2021
1	Infections 04/2021
1	Seizures (Absence Seizure) 01/2021
1	Sudden Death 01/2021
1	Fanconi Anemia (Fanconi's Anemia) 01/2021
1	Fibrosis (Cirrhosis) 01/2021
1	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 01/2021
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2021
1	Megacystis microcolon intestinal hypoperistalsis syndrome 01/2021
1	Pyogenic arthritis, pyoderma gangrenosum, and acne 01/2021
1	Blau syndrome 01/2021
1	Pharyngitis (Sore Throat) 01/2021
1	Uveitis 01/2021
1	hyperzincemia and hypercalprotectinemia 01/2021

Drug/Important Bio-Agent (IBA)

11	polyalanineIBA 01/2022 - 07/2005
10	Proteins (Proteins, Gene)FDA Link 04/2021 - 03/2002
9	Glial Fibrillary Acidic ProteinIBA 12/2021 - 01/2008
6	SteroidsIBA 11/2021 - 05/2016
4	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 06/2014 - 03/2006
3	Transcription Factors (Transcription Factor)IBA 11/2021 - 01/2005
3	Mycophenolic Acid (Cellcept)FDA LinkGeneric 11/2021 - 01/2017
3	Pharmaceutical PreparationsIBA 01/2021 - 08/2015
3	CytokinesIBA 01/2020 - 11/2010
3	Hormones (Hormone)IBA 01/2019 - 11/2010
3	Alanine (L-Alanine)FDA Link 01/2017 - 01/2007
3	Ceftriaxone (Ceftriaxon)FDA LinkGeneric 01/2013 - 03/2010
2	Sirolimus (Rapamycin)FDA Link 01/2022 - 11/2021
2	AntibodiesIBA 01/2022 - 02/2013
2	Adenosine DeaminaseIBA 01/2021 - 10/2017
2	3' Untranslated Regions (3' UTR)IBA 01/2021 - 02/2007
2	Colchicine FDA LinkGeneric 01/2020 - 01/2020
2	Estrogen ReceptorsIBA 01/2019 - 05/2016
2	Biological ProductsIBA 01/2018 - 01/2017
2	Mutant Proteins (Protein, Mutant)IBA 06/2014 - 06/2013
2	Neuroprotective AgentsIBA 09/2012 - 08/2010
2	Glial Cell Line-Derived Neurotrophic Factor (GDNF)IBA 03/2009 - 03/2002
1	RNA (Ribonucleic Acid)IBA 03/2022
1	Immunoglobulin G (IgG)IBA 01/2022
1	2,6-dinitrotoluene (DNT)IBA 01/2022
1	MicroRNAs (MicroRNA)IBA 11/2021
1	T-Cell Antigen Receptors (T-Cell Receptor)IBA 11/2021
1	Abatacept (Orencia)FDA Link 11/2021
1	Intravenous Immunoglobulins (IVIG)FDA Link 10/2021
1	Oncostatin M Receptors (Oncostatin M Receptor)IBA 04/2021
1	Deficiency of interleukin-1 receptor antagonistIBA 01/2021
1	Adalimumab (Humira)FDA Link 01/2021
1	Mitochondrial DNA (mtDNA)IBA 01/2021
1	Carbamazepine (Tegretol)FDA LinkGeneric 01/2021
1	Clomipramine (Anafranil)FDA LinkGeneric 01/2021
1	ElastinIBA 01/2021
1	diepoxybutaneIBA 01/2021
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2021
1	InflammasomesIBA 01/2021
1	Tacrolimus (Prograf)FDA LinkGeneric 01/2021
1	Phenytoin (Dilantin)FDA LinkGeneric 01/2021
1	Phosphoprotein Phosphatases (Phosphatases, Protein)IBA 01/2021
1	Proline (L-Proline)FDA Link 01/2021

Therapy/Procedure

7	Therapeutics 11/2021 - 01/2013
1	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/2022