List of works - Nicola Brunetti-Pierri

15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.

scientific article published in August 2008

30-year follow-up of a patient with classic citrullinemia

scientific article published on 23 March 2012

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

scientific article

A pilot clinical trial with losartan in Myhre syndrome

scientific article published on 24 December 2020

A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement.

scientific article

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

scientific article published on 29 April 2020

Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates.

scientific article published in January 2004

Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia

scientific article published on 19 February 2019

Assessment of bone mineral status in children with Marfan syndrome.

scientific article published on 7 August 2012

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 21 October 2020

Autophagy master regulator TFEB induces clearance of toxic SERPINA1/α-1-antitrypsin polymers

scientific article published on 12 April 2013

Autosomal Dominant Ménétrier-like Disease

scientific article published in December 2012

Balloon Catheter Delivery of Helper-dependent Adenoviral Vector Results in Sustained, Therapeutic hFIX Expression in Rhesus Macaques ⬇️

scientific article published on July 24, 2012

Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders

scientific article published on 28 December 2020

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

scientific article published on 11 May 2021

Bioengineered factor IX molecules with increased catalytic activity improve the therapeutic index of gene therapy vectors for hemophilia B

scientific article

Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis

scientific article

CHOP and c-JUN upregulate the mutant Z alpha-1 antitrypsin, exacerbating its aggregation and liver proteotoxicity

scientific article published on 28 July 2020

Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder

scientific article published on 06 February 2020

Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization

scientific article published on 3 October 2007

Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review

scientific article published in January 2005

Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder

scientific article published on 01 January 2014

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

scientific article published on 21 May 2007

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

scientific article published on May 2010

Correction of hyperbilirubinemia in gunn rats by surgical delivery of low doses of helper-dependent adenoviral vectors

scientific article published on 14 April 2014

Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors

scientific article

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

scientific article

Cystic fibrosis: A disorder with defective autophagy

scientific article published on 01 January 2011

DUF1220-domain copy number implicated in human brain-size pathology and evolution

scientific article

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

scientific article published on 22 July 2020

Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition

scientific article published on 15 August 2010

Differential inhibition of PDKs by phenylbutyrate and enhancement of pyruvate dehydrogenase complex activity by combination with dichloroacetate

scientific article

Dilation of the aortic root in mitochondrial disease patients

article

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

scientific article published in 2022

Expansion of the phenotype of lateral meningocele syndrome

scientific article published on 06 March 2020

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

scientific article published on 11 July 2020

Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome?

scientific article published on 31 August 2012

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

scientific article published on 03 June 2008

Gene therapy for inborn errors of liver metabolism.

scientific article

Gene therapy for inherited diseases of liver metabolism.

scientific article published on April 2015

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency

scientific article published on 4 February 2013

Generalized metabolic bone disease in Neurofibromatosis type I

scientific article

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

scientific article published on 08 November 2013

Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency?

scientific article published on 01 January 2007

Guidelines for the use and interpretation of assays for monitoring autophagy

scientific article

Helper-dependent adenoviral vectors for liver-directed gene therapy.

scientific article

Hepatic glutamine synthetase augmentation enhances ammonia detoxification

scientific article published on 11 March 2019

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

scientific article published on 13 March 2013

Identification of small molecules enhancing autophagic function from drug network analysis

scientific article

Identification of small molecules enhancing autophagic function from drug network analysis

article

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4

scientific article (publication date: September 2003)

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats

scientific article

Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primates.

scientific article published in April 2006

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene

scientific article (publication date: 15 May 2005)

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in theDAX-1 gene

article

Inborn errors of metabolism: the flux from Mendelian to complex diseases.

scientific article

Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors.

scientific article

Intrathecal Injection of Helper-Dependent Adenoviral Vectors Results in Long-Term Transgene Expression in Neuroependymal Cells and Neurons ⬇️

scientific article published on March 18, 2011

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis

scientific article published on 22 August 2007

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Liver-directed gene-based therapies for inborn errors of metabolism

scientific article published on 03 September 2020

Long-term follow-up of an individual with ITPR1-related disorder

scientific article published on 04 June 2020

Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy ⬇️

scientific article published on October 30, 2012

Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease

scientific article published on 12 February 2013

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

scientific article published on 31 May 2019

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

scientific article

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

scientific article

MyD88-dependent silencing of transgene expression during the innate and adaptive immune response to helper-dependent adenovirus.

scientific article

Next-generation sequencing for disorders of low and high bone mineral density ⬇️

scientific article published on February 27, 2013

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.

scientific article published on 29 October 2002

Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock

scientific article published on 24 May 2019

Parkes Weber syndrome occurring in a family with capillary malformations

scientific article published on 01 July 2007

Phenylbutyrate therapy for maple syrup urine disease ⬇️

scientific article published on November 23, 2010

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

scientific article

Progress and challenges in development of new therapies for urea cycle disorders

scientific article published on 01 October 2019

Progress and prospects: gene therapy for genetic diseases with helper-dependent adenoviral vectors.

scientific article published on 21 February 2008

Progress towards liver and lung-directed gene therapy with helper-dependent adenoviral vectors

scientific article published on October 2009

Progressive myopathy with multiple symmetric lipomatosis

scientific article published on 01 December 2009

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

scientific article published on 10 October 2013

Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI.

scientific article published in June 2008

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

scientific article

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

scientific article published on 15 May 2020

Reply to Amor et al.

scientific article published on 18 January 2012

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

scientific article published on 11 April 2019

Retinal transduction profiles by high-capacity viral vectors

scientific article published on 3 July 2014

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation

scientific article

Rubinstein-Taybi syndrome in diverse populations

scientific article published on 27 September 2020

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

scientific article published on 08 January 2014

SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors

scientific article published on 29 January 2013

SR-A and SREC-I binding peptides increase HDAd-mediated liver transduction.

scientific article

Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene

scientific article

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

scientific article published on 06 May 2019

Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector.

scientific article published on 14 April 2009

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

scientific article published on 27 July 2019

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

scientific article published in July 2007

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

scientific article published in May 2008

Targeting autophagy for therapy of hyperammonemia

scientific article published on 23 July 2018

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

scientific article published in July 2010

Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors.

scientific article published in February 2007

Transcriptional gene network inference from a massive dataset elucidates transcriptome organization and gene function.

scientific article published on 23 July 2011

Transgene Expression up to 7 Years in Nonhuman Primates Following Hepatic Transduction with Helper-Dependent Adenoviral Vectors ⬇️

scientific article published on August 1, 2013

Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad.

scientific article

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.

scientific article published on 17 September 2012

Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis.

scientific article published on 5 June 2014

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

scientific article published in December 1997

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

scientific article published on 10 June 2015

List of works by Nicola Brunetti-Pierri

15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.

30-year follow-up of a patient with classic citrullinemia

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

A pilot clinical trial with losartan in Myhre syndrome

A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement.

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates.

Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia

Assessment of bone mineral status in children with Marfan syndrome.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Autophagy master regulator TFEB induces clearance of toxic SERPINA1/α-1-antitrypsin polymers

Autosomal Dominant Ménétrier-like Disease

Balloon Catheter Delivery of Helper-dependent Adenoviral Vector Results in Sustained, Therapeutic hFIX Expression in Rhesus Macaques ⬇️

Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

Bioengineered factor IX molecules with increased catalytic activity improve the therapeutic index of gene therapy vectors for hemophilia B

Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis

CHOP and c-JUN upregulate the mutant Z alpha-1 antitrypsin, exacerbating its aggregation and liver proteotoxicity

Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder

Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization

Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review

Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

Correction of hyperbilirubinemia in gunn rats by surgical delivery of low doses of helper-dependent adenoviral vectors

Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors

Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

Cystic fibrosis: A disorder with defective autophagy

DUF1220-domain copy number implicated in human brain-size pathology and evolution

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition

Differential inhibition of PDKs by phenylbutyrate and enhancement of pyruvate dehydrogenase complex activity by combination with dichloroacetate

Dilation of the aortic root in mitochondrial disease patients

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Expansion of the phenotype of lateral meningocele syndrome

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome?

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

Gene therapy for inborn errors of liver metabolism.

Gene therapy for inherited diseases of liver metabolism.

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency

Generalized metabolic bone disease in Neurofibromatosis type I

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency?

Guidelines for the use and interpretation of assays for monitoring autophagy

Helper-dependent adenoviral vectors for liver-directed gene therapy.

Hepatic glutamine synthetase augmentation enhances ammonia detoxification

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

Identification of small molecules enhancing autophagic function from drug network analysis

Identification of small molecules enhancing autophagic function from drug network analysis

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats

Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primates.

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in theDAX-1 gene

Inborn errors of metabolism: the flux from Mendelian to complex diseases.

Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors.

Intrathecal Injection of Helper-Dependent Adenoviral Vectors Results in Long-Term Transgene Expression in Neuroependymal Cells and Neurons ⬇️

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Liver-directed gene-based therapies for inborn errors of metabolism

Long-term follow-up of an individual with ITPR1-related disorder

Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy ⬇️

Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

MyD88-dependent silencing of transgene expression during the innate and adaptive immune response to helper-dependent adenovirus.

Next-generation sequencing for disorders of low and high bone mineral density ⬇️

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.

Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock

Parkes Weber syndrome occurring in a family with capillary malformations

Phenylbutyrate therapy for maple syrup urine disease ⬇️

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

Progress and challenges in development of new therapies for urea cycle disorders

Progress and prospects: gene therapy for genetic diseases with helper-dependent adenoviral vectors.

Progress towards liver and lung-directed gene therapy with helper-dependent adenoviral vectors