Research Output 1981 2019

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2019

4′-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN

Jeong, S. Y., Hogarth, P., Placzek, A., Gregory, A. M., Fox, R., Zhen, D., Hamada, J., van der Zwaag, M., Lambrechts, R., Jin, H., Nilsen, A., Cobb, J., Pham, T., Gray, N., Ralle, M., Duffy, M., Schwanemann, L., Rai, P., Freed, A., Wakeman, K. & 3 others, Woltjer, R. L., Sibon, O. C. M. & Hayflick, S. J., Jan 1 2019, (Accepted/In press) In : EMBO Molecular Medicine. e10489.

Research output: Contribution to journalArticle

Open Access
Pantothenate Kinase-Associated Neurodegeneration
Coenzyme A
Dopamine
Iron
Biomarkers

A case of recurrent epilepsy-associated rosette-forming glioneuronal tumor with anaplastic transformation in the absence of therapy

Halfpenny, A., Ferris, S. P., Grafe, M., Woltjer, R. R., Selden, N., Nazemi, K., Perry, A., Solomon, D. A., Gultekin, S., Moore, S., Olson, S., Lawce, H., Lucas, L., Corless, C. & Wood, M., Jan 1 2019, (Accepted/In press) In : Neuropathology.

Research output: Contribution to journalArticle

Open Access
Epilepsy
Neuroepithelial Neoplasms
Fluorescence In Situ Hybridization
Neoplasms
Temporal Lobe
9 Citations (Scopus)

Activation of PP2A and inhibition of mTOR synergistically reduce MYC signaling and decrease tumor growth in pancreatic ductal adenocarcinoma

Allen-Petersen, B. L., Risom, T., Feng, Z., Wang, Z., Jenny, Z. P., Thoma, M. C., Pelz, K. R., Morton, J. P., Sansom, O. J., Lopez, C., Sheppard, B., Christensen, D. J., Ohlmeyer, M., Narla, G. & Sears, R., Jan 1 2019, In : Cancer Research. 79, 1, p. 209-219 11 p.

Research output: Contribution to journalArticle

Protein Phosphatase 2
Adenocarcinoma
Phosphoric Monoester Hydrolases
Phosphotransferases
Growth

ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization

A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee, Oct 1 2019, In : Genetics in medicine : official journal of the American College of Medical Genetics. 21, 10, 1 p.

Research output: Contribution to journalArticle

Fluorescence In Situ Hybridization
Guidelines
2 Citations (Scopus)

Alternative splicing in tumors - A path to immunogenicity?

Slansky, J. E. & Spellman, P., Feb 28 2019, In : New England Journal of Medicine. 380, 9, p. 877-880 4 p.

Research output: Contribution to journalArticle

Neoplastic Gene Expression Regulation
Immunogenetic Phenomena
Alternative Splicing
Antigens
Neoplasms

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

Oswiecimska, J., Dawidziuk, M., Gambin, T., Ziora, K., Marek, M., Rzonca, S., Guilbride, D. L., Jhangiani, S. N., Obuchowicz, A., Sikora, A., Lupski, J. R., Wiszniewski, W. & Gawlinski, P., Sep 3 2019, In : Journal of clinical research in pediatric endocrinology. 11, 3, p. 319-326 8 p.

Research output: Contribution to journalArticle

Open Access
Congenital Generalized Lipodystrophy
Polyneuropathies
Mutation
1-Acylglycerol-3-Phosphate O-Acyltransferase
Dual (Psychiatry) Diagnosis
5 Citations (Scopus)

A Stromal Lysolipid-Autotaxin Signaling Axis Promotes Pancreatic Tumor Progression

Auciello, F. R., Bulusu, V., Oon, C., Tait-Mulder, J., Berry, M., Bhattacharyya, S., Tumanov, S., Allen-Petersen, B. L., Link, J., Kendsersky, N. D., Vringer, E., Schug, M., Novo, D., Hwang, R. F., Evans, R. M., Nixon, C., Dorrell, C., Morton, J. P., Norman, J. C., Sears, R. & 2 others, Kamphorst, J. J. & Sherman, M., May 1 2019, In : Cancer discovery. 9, 5, p. 617-627 11 p.

Research output: Contribution to journalArticle

Open Access
Adenocarcinoma
Neoplasms
Wound Healing
Lipids
Pancreatic Stellate Cells
2 Citations (Scopus)

Autologous Gene and Cell Therapy Provides Safe and Long-Term Curative Therapy in A Large Pig Model of Hereditary Tyrosinemia Type 1

Hickey, R. D., Nicolas, C. T., Allen, K., Mao, S., Elgilani, F., Glorioso, J., Amiot, B., VanLith, C., Guthman, R., Du, Z., Chen, H., Harding, C., Kaiser, R. A., Nyberg, S. L. & Lillegard, J. B., Jan 1 2019, In : Cell Transplantation. 28, 1, p. 79-88 10 p.

Research output: Contribution to journalArticle

Tyrosinemias
Cell- and Tissue-Based Therapy
Genetic Therapy
Liver
Hydrolases

Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)

Gregory, A., Lotia, M., Jeong, S. Y., Fox, R., Zhen, D., Sanford, L., Hamada, J., Jahic, A., Beetz, C., Freed, A., Kurian, M. A., Cullup, T., van der Weijden, M. C. M., Nguyen, V., Setthavongsack, N., Garcia, D., Krajbich, V., Pham, T., Woltjer, R. R., George, B. P. & 5 others, Minks, K. Q., Paciorkowski, A. R., Hogarth, P. P., Jankovic, J. & Hayflick, S., Jul 1 2019, In : Molecular Genetics and Genomic Medicine. 7, 7, e00736.

Research output: Contribution to journalArticle

Open Access
Mitochondrial Proteins
Mitochondrial Membranes
Membrane Proteins
Multiplex Polymerase Chain Reaction
Brain

Blood cytokine patterns suggest a modest inflammation phenotype in subjects with long-chain fatty acid oxidation disorders

McCoin, C. S., Gillingham, M., Knotts, T. A., Vockley, J., Ono-Moore, K. D., Blackburn, M. L., Norman, J. E. & Adams, S. H., Mar 1 2019, In : Physiological Reports. 7, 6, e14037.

Research output: Contribution to journalArticle

Open Access
Fatty Acids
Cytokines
Inflammation
Phenotype
Exercise
2 Citations (Scopus)

Circulating tumor DNA dynamics using patient-customized assays are associated with outcome in neoadjuvantly treated breast cancer

Butler, T. M., Boniface, C. T., Johnson-Camacho, K., Tabatabaei, S., Melendez, D., Kelley, T., Gray, J., Corless, C. & Spellman, P., Apr 1 2019, In : Cold Spring Harbor molecular case studies. 5, 2

Research output: Contribution to journalArticle

Open Access
Chemotherapy
Tumors
Assays
Breast Neoplasms
Drug Therapy

Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes

Beighley, J. S., Hudac, C. M., Arnett, A. B., Peterson, J. L., Gerdts, J., Wallace, A. S., Mefford, H. C., Hoekzema, K., Turner, T. N., O'Roak, B., Eichler, E. E. & Bernier, R. A., Jan 1 2019, (Accepted/In press) In : Biological Psychiatry.

Research output: Contribution to journalArticle

DNA-Binding Proteins
Phenotype
Mutation
Genes
Exome

Fibrillin-1 in the Vasculature: In Vivo Accumulation of eGFP-Tagged Fibrillin-1 in a Knockin Mouse Model

Charbonneau, N. L., Manalo, E. C., Tufa, S. F., Carlson, E. J., Carlberg, V. M., Keene, D. R. & Sakai, L., Jan 1 2019, In : Anatomical Record.

Research output: Contribution to journalArticle

animal models
fluorescence
Fluorescence
Marfan Syndrome
aorta
1 Citation (Scopus)

GRB7 dependent proliferation of basal-like, HER-2 positive human breast cancer cell lines is mediated in part by HER-1 signaling

Luoh, S-W., Wagoner, W., Wang, X., Hu, Z., Lai, X., Chin, K-Y., Sears, R. & Ramsey, E., Jan 1 2019, In : Molecular Carcinogenesis.

Research output: Contribution to journalArticle

Breast Neoplasms
Cell Line
Small Interfering RNA
Growth
GRB7 Adaptor Protein

Hemozoin produced by mammals confers heme tolerance

Pek, R. H., Yuan, X., Rietzschel, N., Zhang, J., Jackson, L., Nishibori, E., Ribeiro, A., Simmons, W., Jagadeesh, J., Sugimoto, H., Alam, M. Z., Garrett, L., Haldar, M., Ralle, M., Phillips, J. D., Bodine, D. M. & Hamza, I., Oct 1 2019, In : eLife. 8

Research output: Contribution to journalArticle

Open Access
Mammals
Heme
Macrophages
hemozoin
Deficiency Diseases
Dietary Proteins
Fatty Acids
Lipids
Liver
Energy Metabolism

High-Throughput Single-Cell Sequencing with Linear Amplification

Yin, Y., Jiang, Y., Lam, K. W. G., Berletch, J. B., Disteche, C. M., Noble, W. S., Steemers, F. J., Camerini-Otero, R. D., Adey, A. C. & Shendure, J., Nov 21 2019, In : Molecular Cell. 76, 4, p. 676-690.e10

Research output: Contribution to journalArticle

Genome
Chromosome Segregation
Spermatozoa
Clustered Regularly Interspaced Short Palindromic Repeats
Genomic Instability
17 Citations (Scopus)

Human Tumor-Associated Macrophage and Monocyte Transcriptional Landscapes Reveal Cancer-Specific Reprogramming, Biomarkers, and Therapeutic Targets

Cassetta, L., Fragkogianni, S., Sims, A. H., Swierczak, A., Forrester, L. M., Zhang, H., Soong, D. Y. H., Cotechini, T., Anur, P., Lin, E., Fidanza, A., Lopez-Yrigoyen, M., Millar, M. R., Urman, A., Ai, Z., Spellman, P., Hwang, E. S., Dixon, J. M., Wiechmann, L., Coussens, L. & 2 others, Smith, H. O. & Pollard, J. W., Apr 15 2019, In : Cancer Cell. 35, 4, p. 588-602.e10

Research output: Contribution to journalArticle

Open Access
Monocytes
Biomarkers
Macrophages
Breast Neoplasms
Transcriptome
1 Citation (Scopus)

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

for the Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group, Jul 1 2019, In : Annals of Neurology. 86, 1, p. 116-128 13 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Cognition
Therapeutics
Intellectual Disability
Liver Transplantation
1 Citation (Scopus)

Localization of the Locus Coeruleus in the Mouse Brain

Schmidt, K., Bari, B., Ralle, M., Washington-Hughes, C., Muchenditsi, A., Maxey, E. & Lutsenko, S., Mar 7 2019, In : Journal of visualized experiments : JoVE. 145

Research output: Contribution to journalArticle

Locus Coeruleus
Brain
Metals
Metal testing
Norepinephrine

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria

Zori, R., Ahring, K., Burton, B., Pastores, G. M., Rutsch, F., Jha, A., Jurecki, E., Rowell, R. & Harding, C., Jan 1 2019, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Open Access
Phenylketonurias
Standard of Care
Phenylalanine
Nutrition
Blood

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

van Ginkel, W. G., Rodenburg, I. L., Harding, C. O., Hollak, C. E. M., Heiner-Fokkema, M. R. & van Spronsen, F. J., Jan 1 2019, (Accepted/In press) In : Pediatric Drugs.

Research output: Contribution to journalArticle

Tyrosinemias
Pharmacology
Tyrosine
Hepatocellular Carcinoma
Phenylalanine

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients

Diaz, G. A., Schulze, A., Longo, N., Rhead, W., Feigenbaum, A., Wong, D., Merritt, J. L., Berquist, W., Gallagher, R. C., Bartholomew, D., McCandless, S. E., Smith, W. E., Harding, C., Zori, R., Lichter-Konecki, U., Vockley, J., Canavan, C., Vescio, T., Holt, R. J. & Berry, S. A., Jan 1 2019, In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Open Access
Inborn Urea Cycle Disorder
Urea
Safety
Pediatrics
Ammonia

Manganese co-localizes with calcium and phosphorus in Chlamydomonas acidocalcisomes and is mobilized in manganese-deficient conditions

Tsednee, M., Castruita, M., Salomé, P. A., Sharma, A., Lewis, B. E., Schmollinger, S. R., Strenkert, D., Holbrook, K., Otegui, M. S., Khatua, K., Das, S., Datta, A., Chen, S., Ramon, C., Ralle, M., Weber, P. K., Stemmler, T. L., Pett-Ridge, J., Hoffman, B. M. & Merchant, S. S., Jan 1 2019, In : Journal of Biological Chemistry. 294, 46, p. 17626-17641 16 p.

Research output: Contribution to journalArticle

Chlamydomonas
Manganese
Phosphorus
Calcium
Polyphosphates
2 Citations (Scopus)

Modeling differentiation-state transitions linked to therapeutic escape in triple-negative breast cancer

Chapman, M. P., Risom, T., Aswani, A. J., Langer, E. M., Sears, R. & Tomlin, C. J., Mar 1 2019, In : PLoS computational biology. 15, 3, p. e1006840

Research output: Contribution to journalArticle

Open Access
Triple Negative Breast Neoplasms
State Transition
Breast Cancer
breast neoplasms
cancer
5 Citations (Scopus)

Modeling Tumor Phenotypes In Vitro with Three-Dimensional Bioprinting

Langer, E. M., Allen-Petersen, B. L., King, S. M., Kendsersky, N. D., Turnidge, M. A., Kuziel, G. M., Riggers, R., Samatham, R., Amery, T. S., Jacques, S., Sheppard, B., Korkola, J., Muschler, J., Thibault, G., Chang, Y. H., Gray, J., Presnell, S. C., Nguyen, D. G. & Sears, R., Jan 15 2019, In : Cell Reports. 26, 3, p. 608-623.e6

Research output: Contribution to journalArticle

Bioprinting
Tumors
Tissue
Phenotype
Scaffolds
1 Citation (Scopus)

Mycand loss of p53 cooperate to drive formation of choroid plexus carcinoma

Wang, J., Merino, D. M., Light, N., Murphy, B. L., Wang, Y. D., Guo, X., Hodges, A. P., Chau, L. Q., Liu, K. W., Dhall, G., Asgharzadeh, S., Kiehna, E. N., Shirey, R. J., Janda, K. D., Taylor, M. D., Malkin, D., Ellison, D. W., VandenBerg, S. R., Eberhart, C. G., Sears, R. & 3 others, Rousse, M. F., Gilbertson, R. J. & Wechsler-Reya, R. J., Jan 1 2019, In : Cancer Research. 79, 9, p. 2208-2219 12 p.

Research output: Contribution to journalArticle

Brain Neoplasms
Choroid Plexus Neoplasms
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 8

Obesity is associated with copper elevation in serum and tissues

Yang, H., Liu, C. N., Wolf, R. M., Ralle, M., Dev, S., Pierson, H., Askin, F., Steele, K. E., Magnuson, T. H., Schweitzer, M. A., Wong, G. W. & Lutsenko, S., Aug 1 2019, In : Metallomics. 11, 8, p. 1363-1371 9 p.

Research output: Contribution to journalArticle

Copper
Obesity
Tissue
Serum
Leptin

REGγ ablation impedes dedifferentiation of anaplastic thyroid carcinoma and accentuates radio-therapeutic response by regulating the Smad7-TGF-β pathway

Jiao, C., Li, L., Zhang, P., Zhang, L., Li, K., Fang, R., Yuan, L., Shi, K., Pan, L., Guo, Q., Gao, X., Chen, G., Xu, S., Wang, Q., Zuo, D., Wu, W., Qiao, S., Wang, X., Moses, R., Xiao, J. & 3 others, Li, L., Dang, Y. & Li, X., Jan 1 2019, In : Cell Death and Differentiation.

Research output: Contribution to journalArticle

Open Access
Radio
Thyroid Gland
Therapeutics
Signal Transduction
Cell Dedifferentiation
2 Citations (Scopus)

Single-cell sequencing of primate preimplantation embryos reveals chromosome elimination via cellular fragmentation and blastomere exclusion

Daughtry, B. L., Rosenkrantz, J. L., Lazar, N. H., Fei, S. S., Redmayne, N., Torkenczy, K. A., Adey, A., Yan, M., Gao, L., Park, B., Nevonen, K. A., Carbone, L. & Chavez, S., Mar 1 2019, In : Genome Research. 29, 3, p. 367-382 16 p.

Research output: Contribution to journalArticle

Open Access
Blastomeres
Blastocyst
Primates
Chromosomes
Aneuploidy

Targeting mitochondria in cancer therapy could provide a basis for the selective anticancer activity

Rozanov, D., Cheltsov, A., Nilsen, A., Boniface, C., Forquer, I., Korkola, J., Gray, J., Tyner, J., Tognon, C. E., Mills, G. & Spellman, P., Mar 1 2019, In : PloS one. 14, 3, e0205623.

Research output: Contribution to journalArticle

Open Access
Mitochondria
Assays
mitochondria
therapeutics
neoplasms
1 Citation (Scopus)

The accessible chromatin landscape of the murine hippocampus at single-cell resolution

Sinnamon, J. R., Torkenczy, K. A., Linhoff, M. W., Vitak, S. A., Mulqueen, R. M., Pliner, H. A., Trapnell, C., Steemers, F. J., Mandel, G. & Adey, A., May 1 2019, In : Genome Research. 29, 5, p. 857-869 13 p.

Research output: Contribution to journalArticle

Open Access
Chromatin
Hippocampus
Transposases
Neurons
Pyramidal Cells

The acute kidney injury to chronic kidney disease transition in a mouse model of acute cardiorenal syndrome emphasizes the role of inflammation

Matsushita, K., Saritas, T., Eiwaz, M. B., McClellan, N., Coe, I., Zhu, W., Ferdaus, M. Z., Sakai, L. Y., McCormick, J. A. & Hutchens, M. P., Jan 1 2019, (Accepted/In press) In : Kidney International.

Research output: Contribution to journalArticle

Cardio-Renal Syndrome
Cardiopulmonary Resuscitation
Chronic Renal Insufficiency
Acute Kidney Injury
Heart Arrest

The proteasome activator REGγ counteracts immunoproteasome expression and autoimmunity

Yao, L., Zhou, L., Xuan, Y., Zhang, P., Wang, X., Wang, T., Meng, T., Xue, Y., Ma, X., Shah, A. S., Shang, S., Ma, X., Xie, W., Wang, H., Fu, Q., Xia, Y., Moses, R., Wang, H., Li, L., Xiao, J. & 2 others, Zhang, B. & Li, X., Sep 1 2019, In : Journal of Autoimmunity. 103, 102282.

Research output: Contribution to journalArticle

Antigen Presentation
Proteasome Endopeptidase Complex
Autoimmunity
T-Lymphocytes
Lupus Nephritis
3 Citations (Scopus)

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

Additional Individual Contributors Of The Ucdc And The E-Imd Consortium, Jan 1 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 93-106 14 p.

Research output: Contribution to journalArticle

Open Access
Rare Diseases
Urea
Research
Inborn Urea Cycle Disorder
Ornithine Carbamoyltransferase Deficiency Disease
2018

A case for expanding carrier testing to include actionable X-linked disorders

Rope, A. F., Kauffman, T. L., Himes, P., Amendola, L. M., Punj, S., Akkari, Y., Potter, A., Davis, J. V., Schneider, J. L., Reiss, J. A., Gilmore, M. J., McMullen, C. K., Nickerson, D. A., Richards, C. S., Jarvik, G. P., Wilfond, B. S. & Goddard, K. A. B., Jan 1 2018, (Accepted/In press) In : Clinical Case Reports.

Research output: Contribution to journalArticle

Genome
Factor VIII
Nuclear Family
Sequence Analysis
Newborn Infant
58 Citations (Scopus)

A Comprehensive Pan-Cancer Molecular Study of Gynecologic and Breast Cancers

The Cancer Genome Atlas Research Network, Apr 9 2018, In : Cancer Cell. 33, 4, p. 690-705.e9

Research output: Contribution to journalArticle

Breast Neoplasms
Atlases
Long Noncoding RNA
Decision Trees
Genome
1 Citation (Scopus)

Altered zinc balance in the Atp7b−/− mouse reveals a mechanism of copper toxicity in Wilson disease

Meacham, K. A., Cortés, M. P., Wiggins, E. M., Maass, A., Latorre, M., Ralle, M. & Burkhead, J. L., Nov 1 2018, In : Metallomics. 10, 11, p. 1595-1606 12 p.

Research output: Contribution to journalArticle

Hepatolenticular Degeneration
Toxicity
Zinc
Copper
Liver
1 Citation (Scopus)

A new NBIA patient from Turkey with homozygous C19ORF12 mutation

Kasapkara, Ç. S., Tümer, L., Gregory, A., Ezgü, F., İnci, A., Derinkuyu, B. E., Fox, R., Rogers, C. & Hayflick, S., Jan 1 2018, (Accepted/In press) In : Acta Neurologica Belgica.

Research output: Contribution to journalArticle

Turkey
Mutation
111 Citations (Scopus)

An Integrated TCGA Pan-Cancer Clinical Data Resource to Drive High-Quality Survival Outcome Analytics

The Cancer Genome Atlas Research Network, Apr 5 2018, In : Cell. 173, 2, p. 400-416.e11

Research output: Contribution to journalArticle

Atlases
Genes
Genome
Survival
Neoplasms
30 Citations (Scopus)

A Pan-Cancer Analysis of Enhancer Expression in Nearly 9000 Patient Samples

The Cancer Genome Atlas Research Network, Apr 5 2018, In : Cell. 173, 2, p. 386-399.e12

Research output: Contribution to journalArticle

Genes
Tumors
Neoplasms
Computational methods
Chromatin
10 Citations (Scopus)

A Pan-Cancer Analysis Reveals High-Frequency Genetic Alterations in Mediators of Signaling by the TGF-β Superfamily

The Cancer Genome Atlas Research Network, Oct 24 2018, In : Cell Systems. 7, 4, p. 422-437.e7

Research output: Contribution to journalArticle

Transforming Growth Factors
Neoplasms
Sequence Deletion
Genes
Gastrointestinal Neoplasms
2 Citations (Scopus)

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

The members of the CSER Actionability and Return of Results Working Group, Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Genomic Medicine.

Research output: Contribution to journalArticle

Translational Medical Research
Disclosure
Genomics
Exome
Research
14 Citations (Scopus)

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

Mighell, T. L., Evans-Dutson, S. & O'Roak, B., May 3 2018, In : American Journal of Human Genetics. 102, 5, p. 943-955 13 p.

Research output: Contribution to journalArticle

Phosphoric Monoester Hydrolases
Mutagenesis
Genotype
Phenotype
Lipids
8 Citations (Scopus)

Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials

Gupta, S., Lau, K., Harding, C., Shepherd, G., Boyer, R., Atkinson, J. P., Knight, V., Olbertz, J., Larimore, K., Gu, Z., Li, M., Rosen, O., Zoog, S. J., Weng, H. H. & Schweighardt, B., Jan 1 2018, (Accepted/In press) In : EBioMedicine.

Research output: Contribution to journalArticle

Phase III Clinical Trials
Phenylketonurias
Antigen-Antibody Complex
Ammonia-Lyases
Phenylalanine
9 Citations (Scopus)

ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine--hydroxylase

Schmidt, K., Ralle, M., Schaffer, T., Jayakanthan, S., Bari, B., Muchenditsi, A. & Lutsenko, S., Jan 1 2018, In : Journal of Biological Chemistry. 293, 52, p. 20085-20098 14 p.

Research output: Contribution to journalArticle

Mixed Function Oxygenases
Copper
Dopamine
Catecholamines
Cultured Cells
12 Citations (Scopus)

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

Members Of The Urea Cycle Disorders Consortium, Feb 8 2018, (Accepted/In press) In : Journal of Inherited Metabolic Disease. p. 1-11 11 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Hyperargininemia
Biomarkers
Citrullinemia
Ammonia
9 Citations (Scopus)

Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice

Winn, S. R., Scherer, T., Thöny, B., Ying, M., Martinez, A., Weber, S., Raber, J. & Harding, C., Jan 1 2018, In : Molecular Genetics and Metabolism. 123, 1, p. 6-20 15 p.

Research output: Contribution to journalArticle

Neurology
Phenylalanine
Dopamine
Brain
Serotonin
147 Citations (Scopus)

Cell-of-Origin Patterns Dominate the Molecular Classification of 10,000 Tumors from 33 Types of Cancer

The Cancer Genome Atlas Network, Apr 5 2018, In : Cell. 173, 2, p. 291-304.e6

Research output: Contribution to journalArticle

Tumors
Tissue
Histology
Methylation
Oncology
2 Citations (Scopus)

Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model

Haddad, M. R., Choi, E. Y., Zerfas, P. M., Yi, L., Martinelli, D., Sullivan, P., Goldstein, D. S., Centeno, J. A., Brinster, L. R., Ralle, M. & Kaler, S. G., Sep 21 2018, In : Molecular Therapy - Methods and Clinical Development. 10, p. 165-178 14 p.

Research output: Contribution to journalArticle

Menkes Kinky Hair Syndrome
Dependovirus
Cerebrospinal Fluid
Copper
Survival