R. Boriack

发表

Oxidation of alpha-ketoglutarate is required for reductive carboxylation in cancer cells with mitochondrial defects.

R. Deberardinis, W. Linehan, D. Rakheja, 2014, Cell reports.

The importance of plasma D‐2HG measurement in screening for IDH mutations in acute myeloid leukaemia

R. Collins, D. Rakheja, D. Oliver, 2016, British journal of haematology.

Accumulation of free 3-hydroxy fatty acids in the culture media of fibroblasts from patients deficient in long-chain l-3-hydroxyacyl-CoA dehydrogenase: a useful diagnostic aid.

J. Ibdah, M. Bennett, R. Boriack, 2001, Clinical chemistry.

Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).

C. Eng, D. Marsh, M. Bennett, 1999, American journal of medical genetics.

Polyunsaturated fatty acids reverse the lysosomal storage and accumulation of subunit 9 of mitochondrial F1F0-ATP synthase in cultured lymphoblasts from patients with Batten disease

M. Bennett, R. Boriack, R. Boustany, 1997, Journal of Inherited Metabolic Disease.

Discovery of selective non-small cell lung cancer toxins that target mitochondrial Complex I

Prashant Mishra, Nikhil Madhusudhan, D. Nijhawan, 2020 .

Wilms Tumor in a Child with L-2-hydroxyglutaric Aciduria

R. Deberardinis, D. Rakheja, L. Klesse, 2010, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Precholesterol Sterols Accumulate in Lipid Rafts of Patients with Smith-Lemli-Opitz Syndrome and X-Linked Dominant Chondrodysplasia Punctata

D. Rakheja, R. Boriack, 2008, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Discordant intracellular and plasma D-2-hydroxyglutarate levels in a patient with IDH2 mutated angioimmunoblastic T-cell lymphoma.

D. Rakheja, R. Boriack, Weina Chen, 2015, International journal of clinical and experimental pathology.

CLN-3 protein is expressed in the pancreatic somatostatin-secreting delta cells.

M. Bennett, R. Boriack, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Quantitative amino acid analysis by liquid chromatography‐tandem mass spectrometry using low cost derivatization and an automated liquid handler

R. Boriack, P. Jones, William S. Phipps, 2019, JIMD reports.

Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study.

J. Vockley, M. Bennett, R. Boriack, 2000, The Journal of pediatrics.

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.

M. Bennett, R. Boriack, M. Raff, 2004, Molecular genetics and metabolism.

Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase.

M. Bennett, R. Boriack, A. Strauss, 2006, Molecular genetics and metabolism.

Tissue expression and subcellular localization of CLN3, the Batten disease protein.

C. Bennett, M. Bennett, L. Margraf, 1999, Molecular genetics and metabolism.

Erythrocyte membrane reacylation in juvenile neuronal ceroid-lipofuscinosis: measurement of membrane-bound carnitine palmitoyl transferase, acyl-CoA synthetase, and lysophospholipid: acyl-CoA acyltransferase activities.

M. Bennett, R. Boriack, 1995, American journal of medical genetics.

Mitochondrial damage results in a reversible increase in lysosomal storage material in lymphoblasts from patients with juvenile neuronal ceroid-lipofuscinosis (Batten Disease).

M. Bennett, R. Boriack, E. Cortiñas, 1995, American journal of medical genetics.

Measurement of Oncometabolites D-2-Hydroxyglutaric Acid and L-2-Hydroxyglutaric Acid.

D. Rakheja, R. Boriack, P. Jones, 2017, Methods in molecular biology.

Target Discovery of Selective Non-Small-Cell Lung Cancer Toxins Reveals Inhibitors of Mitochondrial Complex I.

Prashant Mishra, Nikhil Madhusudhan, D. Nijhawan, 2019, ACS chemical biology.

Establishing a reference interval for measurement of flux through the mitochondrial fatty acid oxidation pathway in cultured skin fibroblasts.

M. Bennett, R. Boriack, Srinivas B. Narayan, 2005, Clinical chemistry.

Increased plasma d-2-hydroxyglutarate in isocitrate dehydrogenase 2-mutated blastic plasmacytoid dendritic cell neoplasm.

D. Rakheja, A. Frankel, R. Boriack, 2015, Human Pathology.

Isocitrate dehydrogenase 1/2 mutational analyses and 2‐hydroxyglutarate measurements in Wilms tumors

R. Deberardinis, D. Rakheja, R. Boriack, 2011, Pediatric blood & cancer.

Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency.

Jonathan Cohen, M. Bennett, R. Boriack, 2001, Molecular genetics and metabolism.

Phenotypic variability among first‐degree relatives with carnitine palmitoyltransferase II deficiency

D. Pendergast, N. Fisher, J. Leddy, 2002, Muscle & nerve.

Papillary thyroid carcinoma shows elevated levels of 2-hydroxyglutarate

D. Rakheja, R. Boriack, M. Mitui, 2011, Tumor Biology.

Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice.

V. Ganapathy, M. Bennett, D. Matern, 2007, Molecular genetics and metabolism.

Improved Stable Isotope Dilution-Gas Chromatography-Mass Spectrometry Method for Serum or Plasma Free 3-Hydroxy-Fatty Acids and Its Utility for the Study of Disorders of Mitochondrial Fatty Acid β-Oxidation

M. Bennett, P. Rinaldo, A. Burlina, 2000 .

Effect of L-Carnitine Supplementation on Cardiac Carnitine Palmitoyltransferase Activities and Plasma Carnitine Concentrations in Adriamycin-Treated Rats

M. Bennett, R. Boriack, Y. Hong, 2003, Pediatric Research.

A Severely Affected Female Infant with X-Linked Dominant Chondrodysplasia Punctata: A Case Report and a Brief Review of the Literature

D. Rakheja, C. Timmons, R. Boriack, 2007, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Serum D‐2‐hydroxyglutarate and the ratio of D‐2HG/L‐2HG predict IDH mutation in acute myeloid leukemia

R. Collins, D. Rakheja, D. Oliver, 2023, EJHaem.

Fatal Hepatic Short-Chain L-3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency: Clinical, Biochemical, and Pathological Studies on Three Subjects with This Recently Identified Disorder of Mitochondrial β-Oxidation

R. Wanders, M. Bennett, L. Ijlst, 1999, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

In vitro PHOTODYNAMIC INACTIVATION OF Herpes simplex VIRUS WITH SAPPHYRINS: 22 π‐ELECTRON PORPHYRIN‐LIKE MACROCYCLES

J. Sessler, R. Boriack, B. Maiya, 1991, Photochemistry and photobiology.

Increased plasma d-2-hydroxyglutarate in isocitrate dehydrogenase 2-mutated blastic plasmacytoid dendritic cell neoplasm.

D. Rakheja, A. Frankel, R. Boriack, 2015, Human pathology.