Professor, Internal Medicine, University of Texas Southwestern Medical Center, Southwestern Medical School
Hematology
Dr. Sandra L. Hofmann, MD
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Sandra Hofmann works in the field of Hematology. She graduated from Washington University School of Medicine in St. Louis. She received 1 awards: "Elected Member". Doctor Sandra L. Hofmann, MD is a published MD. She published 82 publications, including: 'A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutation...' She accepts Medicare payments and is listed with Medicare.gov.
Publications
- Histochemical localization of palmitoyl protein thioesterase-1 activity.
- Systematic siRNA Screen Unmasks NSCLC Growth Dependence by Palmitoyltransferase DHHC5.
- IntraVenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a...
- DHHC5 palmitoylates flotillin-2 and is rapidly degraded on induction of neuronal differentiation in cultured Cells.
- A role for the Ca2+ channel TRPML1 in gastric acid secretion, based on analysis of knockout mice.
- A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund.
- DHHC5 interacts with PDZ domain 3 of post-synaptic density-95 (PSD-95) protein and plays a role in learning and memory.
- Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis.
- Thematic review series: lipid posttranslational modifications. Lysosomal metabolism of lipid-modified proteins.
- Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice.
- Regional and Cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis.
- pdf1, a palmitoyl protein thioesterase 1 Ortholog in Schizosaccharomyces pombe: a yeast model of infantile Batten Disease.
- Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features.
- The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and P...
- Identification and characterization of a cDNA encoding a dolichyl pyrophosphate phosphatase located in the endoplasmic reticulum of mammalian Cells.
- Massive palmitoylation-dependent endocytosis during reoxygenation of anoxic cardiac muscle.
- Modulation of phosphatidylinositol-specific phospholipase C activity by phospholipid interactions, diglycerides, and calcium ions.
- Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients.
- Population genetics and Disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and associat...
- Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.
- Six myosin heavy chain isoforms are expressed during chick breast muscle development.
- A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutation...
- Loss-of-function mutations of SURF-1 are specifically associated with Leigh Syndrome with cytochrome c oxidase deficiency.
- Novel mutations of mitochondrial complex I in pathologically proven Parkinson Disease.
- Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.
- Genetic and structural characterization of the human mitochondrial inner membrane translocase.
- Mutations in the SHR5 gene of Saccharomyces cerevisiae suppress Ras function and block membrane attachment and palmitoylation of Ras proteins.
- Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry.
- Bone morphogenetic protein-2 decorated silk fibroin films induce osteogenic differentiation of human bone marrow stromal Cells.
- mRNA for low density lipoprotein receptor in brain and spinal cord of immature and mature rabbits.
- Osteogenesis by human mesenchymal stem Cells cultured on silk biomaterials: comparison of adenovirus mediated gene transfer and protein delivery of BMP-2.
- Southwestern Internal Medicine Conference: Shiga-like toxins in hemolytic-uremic Syndrome and thrombotic thrombocytopenic purpura.
- PI-specific phospholipase C "alpha" from sheep seminal vesicles is a proteolytic fragment of PI-PLC delta.
- Retinoids--"differentiation agents" for cancer treatment and prevention.
- Histidine-rich calcium binding protein, a sarcoplasmic reticulum protein of striated muscle, is also abundant in arteriolar smooth muscle Cells.
- Functional importance of the amino terminus of Gq alpha.
- New mutations in the neuronal ceroid lipofuscinosis genes.
- Analysis of the synaptic vesicle proteome using three gel-based protein separation techniques.
- The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom.
- Carbon Source-dependent assembly of the Snf1p kinase complex in Candida albicans.
- Sterol-dependent repression of low density lipoprotein receptor promoter mediated by 16-base pair sequence adjacent to binding site for transcription factor Sp1.
- Molecular cloning of a histidine-rich Ca2+-binding protein of sarcoplasmic reticulum that contains highly conserved repeated elements.
- Purification of a sarcoplasmic reticulum protein that binds Ca2+ and plasma lipoproteins.
- The neuronal ceroid-lipofuscinoses (Batten Disease): a new class of lysosomal storage Diseases.
- Overexpression of low density lipoprotein (LDL) receptor eliminates LDL from plasma in transgenic mice.
- Tissue-specific sorting of the human LDL receptor in polarized epithelia of transgenic mice.
- Overexpression of human low density lipoprotein receptors leads to accelerated catabolism of Lp(a) lipoprotein in transgenic mice.
- Positional candidate gene cloning of CLN1.
- cDNA and genomic cloning of HRC, a human sarcoplasmic reticulum protein, and localization of the gene to human chromosome 19 and mouse chromosome 7.
- Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras.
- Assay and isolation of palmitoyl-protein thioesterase from bovine brain using palmitoylated H-Ras as substrate.
- Palmitoyl-protein thioesterase deficiency in a novel granular variant of Lincl.
- Infantile neuronal ceroid lipofuscinosis: no longer just a ''Finnish'' Disease.
- Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
- Depalmitoylation of CAAX motif proteins. Protein structural determinants of palmitate turnover rate.
- Structural basis for the insensitivity of a serine enzyme (palmitoyl-protein thioesterase) to phenylmethylsulfonyl fluoride.
- Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
- Neuronal ceroid lipofuscinosis/Batten Disease: the lysosomal proteinoses.
- cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis.
- Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice.
- Fatty acid analysis of protein-derived lipid thioesters isolated from palmitoyl-protein thioesterase-deficient Cells.
- Metabolic labeling of protein-derived lipid thioesters in palmitoyl-protein thioesterase-deficient Cells.
- Molecular cloning and expression of palmitoyl-protein thioesterase.
- Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid lipofuscinosis.
- Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: implications for treatment of infantile neuronal ceroid lipofuscinosis.
- Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
- Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major histocompatibility complex on chromosome 6p21.3.
- The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis.
- Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.
- Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-Cell disease.
- Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmito...
- Lysosomal targeting of palmitoyl-protein thioesterase.
- Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
- Molecular cloning and expression of palmitoyl-protein thioesterase 2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity.
- Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency.
- The effects of lysosomotropic agents on normal and incl cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function.
- Neuronal ceroid lipofuscinoses caused by Defects in soluble lysosomal enzymes (CLN1 and CLN2).
- Early changes in gene expression in two models of Batten Disease.
- Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten Disease.
- Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.
- Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory ...
Schools
Washington University St Louis
Barnes Jewish Hospital
Washington University
Conditions Treated
- Acute Leukemia
- Anemia
- Antiphospholipid Syndrome (APS)
- Deep Vein Thrombosis (DVT)
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Doctors Specialties
- Hematology
Accepted Insurances
Awards
- Elected Member
Education
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Washington University - Barnes-Jewish Hospital -
Washington University School of Medicine in St. Louis
Hospital
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University of Texas Southwestern Medical Center
Drug Facts
| NPI NUMBER | 1306805437 | |
| NPPES Provider LastName | HOFMANN | |
| NPPES Provider FirstName | SANDRA | |
| NPPES Provider ZIPCode | 753907208 | |
| NPPES Provider State | TX | |
| Specialty Description | Internal Medicine | |
| Total Claim Count | 73.0 | |
| Distinct Opioid Count | 0.0 | |
| Opioid Claim Count | 0.0 | |
| Percent Opioid Claims | 0.0 |
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1306805437 |
| Last Name Of The Provider | HOFMANN |
| First Name Of The Provider | SANDRA |
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