Published in Am J Physiol Cell Physiol on March 21, 2007
Lysinuric protein intolerance: one gene, many problems. Am J Physiol Cell Physiol (2007) 0.89
Glutamine transporters in mammalian cells and their functions in physiology and cancer. Biochim Biophys Acta (2015) 0.82
Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance. JIMD Rep (2011) 0.77
Essential amino acid transporter Lat4 (Slc43a2) is required for mouse development. J Physiol (2015) 0.77
Cloning and molecular characterization of cationic amino acid transporter y⁺LAT1 in grass carp (Ctenopharyngodon idellus). Fish Physiol Biochem (2013) 0.76
A novel ENU-induced mutation, peewee, causes dwarfism in the mouse. Mamm Genome (2009) 0.76
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature. JIMD Rep (2015) 0.75
Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes. Autophagy (2007) 20.92
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
TFEB links autophagy to lysosomal biogenesis. Science (2011) 8.87
A gene network regulating lysosomal biogenesis and function. Science (2009) 7.17
The DNA sequence of the human X chromosome. Nature (2005) 6.97
A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB. EMBO J (2012) 5.03
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (2011) 4.84
Human chromosome 21 gene expression atlas in the mouse. Nature (2002) 4.36
The European dimension for the mouse genome mutagenesis program. Nat Genet (2004) 3.84
A block of autophagy in lysosomal storage disorders. Hum Mol Genet (2007) 3.28
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med (2011) 3.21
Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat Rev Mol Cell Biol (2013) 3.13
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet (2003) 2.83
Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev Cell (2011) 2.71
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell (2003) 2.71
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet (2005) 2.62
TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop. Nat Cell Biol (2013) 2.62
Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. Hum Mol Genet (2011) 2.60
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest (2004) 2.30
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition. Nat Cell Biol (2010) 2.29
Therapeutic goals in the treatment of Gaucher disease. Semin Hematol (2004) 2.29
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood (2013) 2.27
MicroRNA target prediction by expression analysis of host genes. Genome Res (2008) 2.21
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet (2002) 2.20
How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene? Am J Med Genet A (2003) 1.98
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol (2003) 1.95
Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB. Nat Cell Biol (2015) 1.88
Systems medicine and integrated care to combat chronic noncommunicable diseases. Genome Med (2011) 1.78
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. Genet Med (2006) 1.72
Sulfatases and human disease. Annu Rev Genomics Hum Genet (2005) 1.63
Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties. BMC Evol Biol (2008) 1.59
Autophagy in lysosomal storage disorders. Autophagy (2012) 1.59
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease. J Inherit Metab Dis (2011) 1.57
MDR1-P-glycoprotein behaves as an oncofetal protein that promotes cell survival in gastric cancer cells. Lab Invest (2012) 1.56
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat (2007) 1.56
Degenerate self-reactive human T-cell receptor causes spontaneous autoimmune disease in mice. Nat Med (2004) 1.52
Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans. Am J Hum Genet (2007) 1.51
Identification of microRNA-regulated gene networks by expression analysis of target genes. Genome Res (2012) 1.51
No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V. Ann Neurol (2002) 1.48
Lysosomal storage diseases as disorders of autophagy. Autophagy (2007) 1.46
Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification. Genes Dev (2008) 1.46
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease. EMBO Mol Med (2013) 1.44
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. Hum Mol Genet (2008) 1.43
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. J Child Neurol (2005) 1.40
Plasma levels of conjugated bile acids in newborns after a short period of parenteral nutrition. JPEN J Parenter Enteral Nutr (2010) 1.39
Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. Development (2002) 1.39
TFEB regulates autophagy: an integrated coordination of cellular degradation and recycling processes. Autophagy (2011) 1.37
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol (2004) 1.36
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat (2004) 1.36
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. EMBO J (2010) 1.35
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Mol Ther (2007) 1.34
Effect of Lactobacillus GG supplementation on pulmonary exacerbations in patients with cystic fibrosis: a pilot study. Clin Nutr (2007) 1.32
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet (2006) 1.32
Sialidases in vertebrates: a family of enzymes tailored for several cell functions. Adv Carbohydr Chem Biochem (2010) 1.30
Urea-induced ROS generation causes insulin resistance in mice with chronic renal failure. J Clin Invest (2009) 1.27
HOX gene network is involved in the transcriptional regulation of in vivo human adipogenesis. J Cell Physiol (2003) 1.26
Recent development in mammalian sialidase molecular biology. Neurochem Res (2002) 1.26
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. Proc Natl Acad Sci U S A (2007) 1.25
Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy. BMC Genomics (2007) 1.24
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency. EMBO Mol Med (2013) 1.22
Foregut duplication of the stomach diagnosed by endoscopic ultrasound guided fine-needle aspiration cytology: case report and literature review. World J Surg Oncol (2013) 1.21
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Hum Mol Genet (2006) 1.21
Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation. Autophagy (2014) 1.21
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts. Pathogenetics (2008) 1.20
Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain. Mech Dev (2002) 1.20
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. Hum Mol Genet (2007) 1.20
Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS). Ann Rheum Dis (2012) 1.19
Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. Hum Gene Ther (2014) 1.19
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A (2003) 1.18
Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome. Mol Genet Metab (2010) 1.18
The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther (2009) 1.17
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr (2003) 1.16
A RANKL-PKCβ-TFEB signaling cascade is necessary for lysosomal biogenesis in osteoclasts. Genes Dev (2013) 1.15
Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med (2015) 1.15
SUMOylation of tissue transglutaminase as link between oxidative stress and inflammation. J Immunol (2009) 1.14
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Am J Hum Genet (2007) 1.13
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. Hum Mol Genet (2008) 1.13
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur J Pediatr (2005) 1.13
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Hum Mol Genet (2008) 1.12
Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool. Mol Genet Metab (2013) 1.10
Lysosomal enhancement: a CLEAR answer to cellular degradative needs. Cell Cycle (2009) 1.10
Targeting autophagy as a novel strategy for facilitating the therapeutic action of potentiators on ΔF508 cystic fibrosis transmembrane conductance regulator. Autophagy (2012) 1.08
Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene. J Biol Chem (2002) 1.08
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet (2002) 1.08
Celiac disease: in vitro and in vivo safety and palatability of wheat-free sorghum food products. Clin Nutr (2007) 1.08
Lysinuric protein intolerance: reviewing concepts on a multisystem disease. Am J Med Genet C Semin Med Genet (2011) 1.08
The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching. Development (2002) 1.07
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. Hum Mutat (2009) 1.07
Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer. Mol Ther (2010) 1.06
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat. Am J Med Genet A (2011) 1.05