Altered brain protein expression profiles are associated with molecular neurological dysfunction in the PKU mouse model

The secretome signature of colon cancer cell lines

(2013) Esther Imperlini et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Reversal of Metabolic and Neurological Symptoms of Phenylketonuric Mice Treated with a PAH Containing Helper-Dependent Adenoviral Vector

(2012) Monica Cerreto et al.   CURRENT GENE THERAPY

Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life

(2012) B. Ziesch et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Synapsins Contribute to the Dynamic Spatial Organization of Synaptic Vesicles in an Activity-Dependent Manner

(2012) E. F. Fornasiero et al.   JOURNAL OF NEUROSCIENCE

Stabilizing ER Ca2+ Channel Function as an Early Preventative Strategy for Alzheimer’s Disease

(2012) Shreaya Chakroborty et al.   PLoS One

Protein cross-talk in CD133+ colon cancer cells indicates activation of the Wnt pathway and upregulation of SRp20 that is potentially involved in tumorigenicity

(2012) Claudia Corbo et al.   PROTEOMICS

Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium

(2011) Monica Cerreto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Oxidative Stress in Phenylketonuria: What is the Evidence?

(2011) Graziela S. Ribas et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Phenylalanine hydroxylase deficiency

(2011) John J. Mitchell et al.   GENETICS IN MEDICINE

Follow up of phenylketonuria patients

(2011) M. Demirkol et al.   MOLECULAR GENETICS AND METABOLISM

Neurological complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit

(2011) María J. González et al.   MOLECULAR GENETICS AND METABOLISM

Up to date knowledge on different treatment strategies for phenylketonuria

(2011) Amaya Bélanger-Quintana et al.   MOLECULAR GENETICS AND METABOLISM

Nutrition in phenylketonuria

(2011) A. MacDonald et al.   MOLECULAR GENETICS AND METABOLISM

Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase

(2011) Zhen Shi et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Glutamatergic neurotransmission in the synapsin I and II double knock-out mouse

(2011) Inger Lise Bogen et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Gaining insights into the Bcr-Abl activity-independent mechanisms of resistance to imatinib mesylate in KCL22 cells: A comparative proteomic approach

(2010) Irene Colavita et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

Effects of phenylalanine on the survival and neurite outgrowth of rat cortical neurons in primary cultures: possible involvement of brain-derived neurotrophic factor

(2010) Duan Li et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria

(2010) Louis J. Elsas et al.   MOLECULAR GENETICS AND METABOLISM

Brain fuel metabolism, aging, and Alzheimer’s disease

(2010) Stephen Cunnane et al.   NUTRITION

Androgen receptor signaling induced by supraphysiological doses of dihydrotestosterone in human peripheral blood lymphocytes

(2010) Esther Imperlini et al.   PROTEOMICS

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy

(2009) Aurora Daniele et al.   FEBS Journal

An Atypical Role for Collapsin Response Mediator Protein 2 (CRMP-2) in Neurotransmitter Release via Interaction with Presynaptic Voltage-gated Calcium Channels

(2009) Joel M. Brittain et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Brain dysfunction in phenylketonuria: Is phenylalanine toxicity the only possible cause?

(2009) F. J. van Spronsen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses☆

(2009) M.J. de Groot et al.   MOLECULAR GENETICS AND METABOLISM

White matter pathology in phenylketonuria☆

(2009) Peter J. Anderson et al.   MOLECULAR GENETICS AND METABOLISM

Future treatment strategies in phenylketonuria☆

(2009) Francjan J. van Spronsen et al.   MOLECULAR GENETICS AND METABOLISM

Animal models of brain dysfunction in phenylketonuria☆

(2009) A.E. Martynyuk et al.   MOLECULAR GENETICS AND METABOLISM

Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants

(2008) Aurora Daniele et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

(2008) S. F. Dobrowolski et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genetic deletion of synapsin II reduces neuropathic pain due to reduced glutamate but increased GABA in the spinal cord dorsal horn

(2008) Achim Schmidtko et al.   PAIN

CRMP3 is required for hippocampal CA1 dendritic organization and plasticity

(2007) Tam T. Quach et al.   FASEB JOURNAL