Congenital Disorders of Glycosylation Archives

Anne’s experience in stem cell biology began in 2005 when she joined ViaCyte, Inc. where she served as Director of Stem Cell Research and managed an interdisciplinary group working to develop human embryonic stem cells as a replenishable source of pancreatic cells for the treatment of diabetes. Her efforts focused on optimization of the differentiation process, and then on advancing the cell therapy product into development, scaled manufacturing, product characterization, and safety assessment. Anne is a co-inventor on multiple ViaCyte patents, and her team’s contributions played a key role in securing a $20 MM California Institute of Regenerative Medicine (CIRM) Award.

In June of 2010, Sanford Burnham Prebys recruited Anne as Director of Cell Biology to lead efforts in stem cell-based disease modeling at the Conrad Prebys Center for Chemical Genomics. Her role includes leading internal research projects, as well as external collaborations with academic and industry partners. Anne’s research program is primarily focused on neurological and neuromuscular disease, with the aim of designing human cell-based models and assays that recapitulate disease phenotypes, yet have the throughput and reproducibility required for drug discovery. Towards this goal her group has worked to develop a suite of foundational high throughput assays to monitor neuronal morphology, mitochondrial function, and electrophysiology, using high content screening, and multi-electrode array formats. They have conducted high-throughput drug screens on muscular dystrophy patient cells, hiPSC-derived cardiomyocytes, and hiPSC-derived neurons, including from Alzheimer’s patient specific hiPSC. Anne is a principal investigator for the National Institute of Mental Health (NIMH) National Cooperative Reprogrammed Cell Research Groups consortium and has also received research support from rare disease foundations and pharma sponsored collaborations. She also serves on advisory boards for multiple biotechnology companies.

Related Disease
Aging-Related Diseases, Alzheimer’s Disease, Amyotrophic Lateral Sclerosis (Lou Gehrig’s Disease), Congenital Disorders of Glycosylation, Glycosylation-Related Disorders, Multiple Sclerosis, Muscular Dystrophy, Neurodegenerative and Neuromuscular Diseases

Phenomena or Processes
Cell Biology, Development and Differentiation, Development of Neuronal Circuits, Embryonic/Pluripotent Stem Cells, Neurobiology, Neurodegeneration, Neurogenesis, Neuron-Glia Interactions in Myelin, Neurotransmitters, Synapse Formation and Maturation, Synapse Function, Synaptic Transmission

Research Models
Human Adult/Somatic Stem Cells, Human Cell Lines, Human Embryonic Stem Cells

Techniques and Technologies
Cellular and Molecular Imaging, Drug Discovery, Electrophysiology, Fluorescence Microscopy, High Content Imaging, In vivo Modeling, Microarrays, Molecular Genetics

Dr. Anne Bang is an experienced cell biologist and stem cell expert who leads efforts at the Prebys Center to develop patient cell specific and human induced pluripotent stem cell (hiPSC)-based disease models for drug screening and target identification. Her research program is primarily focused on neurological and neuromuscular disease, with the aim of designing human cell based models and assays that reflect higher order cellular functions and recapitulate disease phenotypes, yet have the throughput and reproducibility required for drug discovery. Towards this goal her group has worked to develop a suite of foundational high throughput assays to monitor neuronal morphology, mitochondrial function, and electrophysiology, using high content screening, and multi-electrode array formats. They have conducted high-throughput drug screens on muscular dystrophy patient cells, hiPSC-derived cardiomyocytes, and hiPSC-derived neurons, including from Alzheimer’s patient specific hiPSC. Anne is a principal investigator for the National Institute of Mental Health (NIMH) National Cooperative Reprogrammed Cell Research Groups consortium, and also receives research support from rare disease foundations and pharma sponsored collaborations.

Anne Bang’s Research Report

Publications

High content screen for compounds that modulate neurite outgrowth and retraction of human induced pluripotent stem cell derived neurons. Sherman, S.P. and A.G. Bang. Dis Model Mech. 2018 Feb 2;11(2):dmm031906.
AAV-Mediated Mini-Agrin Delivery is Unable to Rescue Disease Phenotype in a Mouse Model of Limb Girdle Muscular Dystrophy Type 2I. Vannoy, C.H., H. Zhou, C. Qiao, X. Xiao, A.G. Bang*, Qi L. Lu* Am J Pathol. 2017 Feb;187(2):431-440. (*corresponding authors).
Neuronal medium supporting physiological synaptic activity and fundamental functions of human neurons in vitro. Bardy C., M. Van Den Hurk, C. March and, T. Eames, R. Hernandez, M. Kellogg, M. Gorris, B. Galet, V. Palomares, J. Brown, A.G. Bang, J. Mertens, L. Boehnke, L. Boyer, S. Simon, F. H. Gage. Proc Natl Acad Sci U S A. 2015 May 19;112(20):E2725-34.
A Scalable System for Production of Functional Pancreatic Progenitors from Human Embryonic Stem Cells. Schulz T., H.Y. Young, A.D. Agulnick, J. Babin, E.E. Baetge, A.G. Bang, A. Bhoumik, et al. PLoS One. 2012;7(5):e37004.
Novel surface markers for the isolation and transplantation of pancreatic cells derived from human embryonic stem cells. Kelly O.G., M.Y. Chan, L.A. Martinson, K. Kadoya, T. Ostertag, K. Ross, M. Richardson, M.K. Carpenter, K.A. D’Amour, E. Kroon, M. Moorman, E.E. Baetge, and A.G. Bang. Nat Biotechnol. 2011 Jul 31;29(8):750-6.
Characteristics and characterization of human pluripotential stem cells. Bang A.G. and M.K. Carpenter. In Essentials of Stem Cell Biology, 2009 Nov 30;(38)339-343
Deconstructing pluripotency. Bang A.G. and M.K. Carpenter. Science 2008 Apr 4;320(5872):58-9.
Pancreatic endoderm derived from human embryonic stem cells generates glucose responsive insulin-secreting cells in vivo. Kroon E., L. A. Martinson, K. Kadoya, A.G. Bang, O.G. Kelly, S. Eliazer, H. Young, M. Richardson, N.G. Smart, J. Cunningham, A.D. Agulnick, D’Amour KA, M.K. Carpenter & E.E. Baetge. Nat Biotechnol. 2008 Apr;26(4):443-52.
Production of pancreatic hormone-expressing endocrine cells from human embryonic stem cells. D’Amour K.A,. A.G. Bang, S. Eliazer, O.G. Kelly, A.D. Agulnick, N.G. Smart, M.A. Moorman, E. Kroon, M.K. Carpenter & E.E. Baetge. Nat Biotechnol. 2006 Nov;24(11):1392-401

Patents

Jackson, M., and Bang, A.G. 2013. Theranostics platform and methods of use, Patent Application No. PCT/US13/26448, Sanford Burnham Medical Research Institute, La Jolla, CA.
Kelly, O.G., and Bang, A.G. 2012. Methods for purifying endoderm and pancreatic endoderm cells from human embryonic stem cells, United States Patent 8,338,170, ViaCyte, Inc., San Diego, CA.
D’Amour K., Bang A., Baetge, E. 2012. Endocrine precursor cells, pancreatic hormone-expressing cells and methods of production. United States Patent 8,129,182, ViaCyte, Inc., San Diego, CA.
Green, C., Yu X., Bang A., Brandon, E., Kelly, O., Agulnick, A., Baetge, E., D’Amour K., Schulz, T., Robins, A. 2011. Stem cell aggregate suspension compositions and methods of differentiation thereof. United States Patent 8,008,075, ViaCyte, Inc., San Diego, CA.

Oct 11, 2024
Anne Bang joins $12.7M research project on the genetic basis of autism and schizophrenia
Sanford Burnham Prebys scientist and an international team are funded by the California Institute for Regenerative Medicine.
Oct 11, 2024
Aug 18, 2022
Using stem cells to study the biochemistry of learning
A method for studying human neurons could help researchers develop approaches for treating Alzheimer’s, schizophrenia and other neurological diseases.
Aug 18, 2022
Dec 8, 2020
What scientists are learning about COVID-19 and the brain
We caught up with cell biologist Anne Bang, who recently teamed up with her husband to study how SARS-CoV-2 affects…
Dec 8, 2020
Feb 7, 2019
Drug screen conducted at Sanford Burnham Prebys identifies new therapeutic avenues for Alzheimer’s disease
A screen of more than 1,600 Food and Drug Administration (FDA)–approved drugs performed at SBP’s Conrad Prebys Center for Chemical
Feb 7, 2019

Select Publications

Showing 3 of 3

High-throughput screen for compounds that modulate neurite growth of human induced pluripotent stem cell-derived neurons.

Sherman SP, Bang AG

Dis Model Mech 2018 Feb 2 ;11(2):

Cell-surface markers for the isolation of pancreatic cell types derived from human embryonic stem cells.

Kelly OG, Chan MY, Martinson LA, Kadoya K, Ostertag TM, Ross KG, Richardson M, Carpenter MK, D’Amour KA, Kroon E, Moorman M, Baetge EE, Bang AG

Nat Biotechnol 2011 Jul 31 ;29(8):750-6

Neuronal medium that supports basic synaptic functions and activity of human neurons in vitro.

Bardy C, van den Hurk M, Eames T, Marchand C, Hernandez RV, Kellogg M, Gorris M, Galet B, Palomares V, Brown J, Bang AG, Mertens J, Böhnke L, Boyer L, Simon S, Gage FH

Proc Natl Acad Sci U S A 2015 May 19 ;112(20):E2725-34

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Michiko N. Fukuda earned her PhD in biochemistry at the University of Tokyo in 1980. She did postdoctoral work at Fred Hutchinson Cancer Research Center in Seattle prior to her recruitment to Sanford-Burnham Medical Research Institute in 1982.

Education

1980: PhD, University of Tokyo, Biochemistry
1970: MS, University of Tokyo, Biochemistry
1968: BS, Tokyo University of Education, Botany

Related Disease
Breast Cancer, Cancer, Congenital Disorders of Glycosylation, Endometriosis, Glycosylation-Related Disorders, Inherited Disorders, Ovarian Cancer, Prostate Cancer, Testicular Cancer

Michiko Fukuda’s Research Report

Identification of Peptide that Delivers Drugs to Tumors

Chemotherapy effectiveness is often limited by drug toxicity in healthy tissues, although methods that spare normal cells by delivering drugs specifically to tumors may help to overcome this constraint. We have identified a promising tumor-targeted drug delivery vehicle known as the IF7 peptide. Using in vitro assays, we found that the IF7 peptide bound to the protein annexin 1 (Anxa1), which is known from previous studies by others to be enriched on the surface of tumor vasculature in several tumor types. When we injected a fluorescently labeled IF7 peptide into mice with tumors, fluorescent signals appeared in the tumors within one minute of injection. By contrast the tumors showed no fluorescence when mice were pre-injected with anti-Anxa1 antibodies that inhibits IF7-Anxa1 binding, suggesting that the peptide targets tumor by homing to Anxa1.

Effect of IF7-conjugated anti-cancer drug SN-38 on colon cancer mouse model. Activa cancer cells in a large tumor produce chemiluminescence which is captured by imaging. (Hatakeyama et al, 2011).

When IF7 peptide was conjugated with potent anti-cancer drug SN-38 and IF7-SN38 conjugate was injected intravenously to mice with tumors, IF7 could deliver SN-38 to tumors. We found that daily injections of an IF7-SN38 conjugate reduced a large tumor in the mouse without apparent side effects, whereas non-homing peptide-SN38 conjugate or with SN-38 alone did not reduce the tumors (Hatakeyama et al, 2011). The findings suggest that IF7 peptide may represent a clinically relevant vehicle for anti-cancer drugs.

Role of Trophinin in Human Embryo Implantation and Cancer

Invasion of the trophoblast into the endometrium, an essential element of embryo implantation, resembles invasion of malignant tumors. At the initial phase of implantation, the trophoblast and the uterine epithelium establish their first contact via their respective apical cell membranes. We have identified new molecules, trophinin, tastin, and bystin that mediate cell adhesion between trophoblastic cells and endometrial epithelial cells at the respective apical cell membranes. Trophinin is an intrinsic membrane protein, and tastin and bystin are cytoplasmic proteins. All of these molecules are strongly expressed in cells involved in embryo implantation in humans. However, trophinin is not expressed in human endometrial epithelia throughout the hormonal cycle, except only those cells located close to the implanting blastocyst. Trophinin expression by endometrial epithelia is induced by human chorionic gonadotrophin (hCG) derived from the implanting embryo (Sugihara et al, 2008). While embryos invade maternal cells (Sugihara et al, 2007), maternal tissue accepts embryos. We asked what happens in the maternal epithelia when trophinin-mediated adhesion takes place, and found that trophinin-mediated cell adhesion triggers an apoptotic signal in maternal epithelial cells (Tamura et al, 2011).

Distinct signal transduction of trophinin-mediated cell adhesion in trophectoderm cell and endometrial epithelial cells. In trophoblastic cells, ErbB4 (receptor tyrosine kinase) is arrested by bystin/trophinin complex. When trophinin-mediated cell adhesion takes palce, ErbB4 is released from bystin. This allows ErbB4 to be activated by phosphorylation. In endometrial epithelial cells, trophinin-mediated cell adhesion releases PKCd from trophinin. PKCd was then translocated to the nucleus, where it activates caspase 3 for apoptosis (Tamura et al., 2011).

References Cited

Hatakeyama S, Sugihara K, Shibata TK, Nakayama J, Akama TO, Tamura N, Wong SM, Bobkov AA, Takano Y, Ohyama C, Fukuda M, Fukuda MN (2011) Targeted drug delivery to tumor vasculature by a carbohydrate mimetic peptide. Proc Natl Acad Sci U S A 108: 19587-19592

Sugihara K, Kabir-Salmani M, Byrne J, Wolf DP, Lessey B, Iwashita M, Aoki D, Nakayama J, Fukuda MN (2008) Induction of trophinin in human endometrial surface epithelia by CGbeta and IL-1beta. FEBS Lett 582: 197-202

Sugihara K, Sugiyama D, Byrne J, Wolf DP, Lowitz KP, Kobayashi Y, Kabir-Salmani M, Nadano D, Aoki D, Nozawa S, Nakayama J, Mustelin T, Ruoslahti E, Yamaguchi N, Fukuda MN (2007) Trophoblast cell activation by trophinin ligation is implicated in human embryo implantation. Proc Natl Acad Sci U S A 104: 3799-3804

Tamura N, Sugihara K, Akama TO, Fukuda MN (2011) Trophinin-mediated cell adhesion induces apoptosis of human endometrial epithelial cells through PKC-delta. Cell Cycle 10 : 135-143

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Showing 2 of 2

Trophinin-mediated cell adhesion induces apoptosis of human endometrial epithelial cells through PKC-δ.

Tamura N, Sugihara K, Akama TO, Fukuda MN

Cell Cycle 2011 Jan 1 ;10(1):135-43

Enhancement of human sperm motility by trophinin binding peptide.

Hatakeyama S, Sugihara K, Lee SH, Nadano D, Nakayama J, Ohyama C, Fukuda MN

J Urol 2008 Aug ;180(2):767-71

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Evan Y. Snyder earned his MD and PhD (in neuroscience) from the University of Pennsylvania in 1980 as a member of NIH’s Medical Scientist Training Program (MSTP). He had also studied psychology and linguistics at the University of Oxford. After moving to Boston in 1980, he completed residencies in pediatrics and neurology as well as a clinical fellowship in Neonatal-Perinatal Medicine at Children’s Hospital-Boston, Harvard Medical School. He also served as Chief Resident in Medicine (1984-1985) and Chief Resident in Neurology (1987) at Children’s Hospital-Boston. In 1989, he became an attending physician in the Department of Pediatrics (Division of Newborn Medicine) and Department of Neurology at Children’s Hospital-Boston, Harvard Medical School. From 1985-1991, concurrent with his clinical activities, he conducted postdoctoral research as a fellow in the Department of Genetics, Harvard Medical School. In 1992, Dr. Snyder was appointed an instructor in neurology (neonatology) at Harvard Medical School and was promoted to assistant professor in 1996. He maintained lab spaces in both Children’s Hospital-Boston and at Harvard Institutes of Medicine/Beth-Israel Deaconess Medical Center. In 2003, Dr. Snyder was recruited to Sanford Burnham Prebys as Professor and Director of the Program in Stem Cell and Regenerative Biology. He then inaugurated the Stem Cell Research Center (serving as its founding director) and initiated the Southern California Stem Cell Consortium. Dr. Snyder is a Fellow of the American Academy of Pediatrics (FAAP). He also received training in Philosophy and Linguistics at Oxford University.

Related Disease
Alzheimer’s Disease, Amyotrophic Lateral Sclerosis (Lou Gehrig’s Disease), Arthritis, Brain Cancer, Brain Injury, Breast Cancer, Cancer, Childhood Diseases, Congenital Disorders of Glycosylation, HIV-Associated Dementia, Huntington’s Disease, Multiple Sclerosis, Muscular Dystrophy, Neurodegenerative and Neuromuscular Diseases, Neurological and Psychiatric Disorders, Parkinson’s Disease, Peripheral Vascular Disease, Skin Cancer and Melanoma, Spinal Cord Injury, Stroke, Traumatic Injury

We believe the study of stem cell biology will provide insights into many areas: developmental biology, homeostasis in the normal adult, and recovery from injury. Indeed, past and current research has already produced data in these areas that would have been difficult or impossible via any other vehicle. We have engaged in a multidisciplinary approach, simultaneously exploring the basic biology of stem cells, their role throughout the lifetime of an individual, as well as their therapeutic potential. Taken together, these bodies of knowledge will glean the greatest benefit for scientists and, most importantly, for patients. All of our research to date has been preformed in animal models with the ultimate goal of bringing them to clinical trials as soon as possible. Stem cells offer an intriguing mix of controversy, discovery, and hope. Politicians are charged with dealing with the controversial facets of stem cells, as we prefer to focus our energy on their potential for discovery and hope.

The Snyder Lab studies stem cell biology, with the goal of understanding normal development, tissue homeostasis, and recovery from injury and disease. A major focus is neural stem cells (NSCs), which can self-renew and differentiate into neurons, astrocytes, and oligodendrocytes. These properties make NSCs ideal for repair of damage due to injury or disease, but they also make them susceptible to transformation into malignant cancers.

Nov 11, 2024
Seven questions for FDA advisor Evan Snyder
Sanford Burnham Prebys physician-scientist advises the FDA on cell-based therapeutics, tissue engineering and gene therapies.
Nov 11, 2024
Jul 23, 2024
Mini lungs make major COVID-19 discoveries possible
Scientists infect miniature lung organoids with the virus responsible for COVID-19, revealing new ways in which the infection spreads and…
Jul 23, 2024
Jan 25, 2022
New CIRM grant to fund research internships for underrepresented high school students
Thanks to a new grant awarded to Sanford Burnham Prebys by the California Institute for Regenerative Medicine (CIRM), 57 California…
Jan 25, 2022
Nov 18, 2021
From child neurology to stem cells: An interview with Evan Snyder
What do Evan Snyder and Sigmund Freud have in common? Both radically changed how we see the human brain. In…
Nov 18, 2021
Jul 26, 2021
Biomarker could help diagnosis schizophrenia at an early age
Research could lead to blood-based diagnostic test Scientists at Sanford Burnham Prebys have discovered how levels of a protein could…
Jul 26, 2021
Feb 22, 2021
Evan Snyder named Fellow of the American Institute for Medical and Biological Engineering
Renowned stem cell researcher recognized by his peers for seminal contributions to regenerative medicine The American Institute for Medical and…
Feb 22, 2021

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Showing 3 of 3

Probing the lithium-response pathway in hiPSCs implicates the phosphoregulatory set-point for a cytoskeletal modulator in bipolar pathogenesis.

Tobe BTD, Crain AM, Winquist AM, Calabrese B, Makihara H, Zhao WN, Lalonde J, Nakamura H, Konopaske G, Sidor M, Pernia CD, Yamashita N, Wada M, Inoue Y, Nakamura F, Sheridan SD, Logan RW, Brandel M, Wu D, Hunsberger J, Dorsett L, Duerr C, Basa RCB, McCarthy MJ, Udeshi ND, Mertins P, Carr SA, Rouleau GA, Mastrangelo L, Li J, Gutierrez GJ, Brill LM, Venizelos N, Chen G, Nye JS, Manji H, Price JH, McClung CA, Akiskal HS, Alda M, Chuang DM, Coyle JT, Liu Y, Teng YD, Ohshima T, Mikoshiba K, Sidman RL, Halpain S, Haggarty SJ, Goshima Y, Snyder EY

Proc Natl Acad Sci U S A 2017 May 30 ;114(22):E4462-E4471

Proof of concept studies exploring the safety and functional activity of human parthenogenetic-derived neural stem cells for the treatment of Parkinson’s disease.

Gonzalez R, Garitaonandia I, Crain A, Poustovoitov M, Abramihina T, Noskov A, Jiang C, Morey R, Laurent LC, Elsworth JD, Snyder EY, Redmond DE Jr, Semechkin R

Cell Transplant 2015 ;24(4):681-90

Neural stem cells implanted into MPTP-treated monkeys increase the size of endogenous tyrosine hydroxylase-positive cells found in the striatum: a return to control measures.

Bjugstad KB, Redmond DE Jr, Teng YD, Elsworth JD, Roth RH, Blanchard BC, Snyder EY, Sladek JR Jr

Cell Transplant 2005 ;14(4):183-92

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Related Disease
Cancer, Congenital Disorders of Glycosylation, Crohn’s Disease (Colitis), Glycosylation-Related Disorders

Dr. Freeze’s research focuses on the pathology resulting from faulty glycosylation, the process of adding carbohydrate (sugar) chains to proteins and lipids. Carbohydrates are required for proper secretion and targeting of thousands of proteins – an often over looked fact of biology. He is driven by the search for novel therapeutics to treat patients with mutations leading to glycosylation defects called Congenital Disorders of Glycosylation (CDG).

Hudson Freeze’s Research Report

Glycosylation: An Essential Function

The entire cell surface is coated with sugars in complex chains that promote (or sometimes interfere) with cell-to-cell communication. These sugar chains are first attached to proteins deep inside the cell where they help them get into shape for their jobs. As the proteins percolate toward to cell surface and beyond, the sugar chains are sculpted for specific needs. This entire process, called glycosylation, recruits a force of more than 500 genes for this job. The Freeze lab works on several facets of glycosylation, all of them with an eye toward therapeutic applications for diseases that impair the functions of these critical genes.

Human Glycosylation Disorders

We focus is on a group of metabolic diseases called Congenital Disorders of Glycosylation (CDG). Today we know of defects in over 140 genes, well over double those known only 10 years ago. Patients with these diseases have highly variable mental and motor developmental delay, seizures, failure to grow, hypoglycemia (low blood sugar), clotting and digestion abnormalities and skeletal abnormalities to name just a few. These are rare disorders having a few thousand known patients worldwide, but it is likely that many remain undiagnosed, especially in developing countries.

Growing Awareness
Physicians are becoming more aware of glycosylation disorders in general, and basic scientists continue to discover sugar chains at the helm of many basic metabolic processes. Defective glycosylation is also known to cause 15 types of muscular dystrophy.

The explosive growth in the number of different diseases caused by defective glycosylation.

Working with CDG Kids
Rocket: We helped diagnose this young man over 10 years ago, and although he tragically passed away, his gentle face still reminds us of who we work for.

Rocket Williams reaches out to us. Learn more about the Rocket Fund.

Brianna: Sometimes our work leads to brighter outcomes as in the case of Brianna who we met over 20 years ago and treated with a simple therapy.

Flourishing, Brianna is now training to become a veterinarian.

Our Collaborations
The Freeze lab not only identifies new glycosylation disorders, but also tries to understand how these defects cause the disease manifestations. Defects occur in genes that activate and transport sugars, assemble them into glycans and remodel them. Some also traffic and distribute the glycosylation machinery within cells. Ongoing collaborations with academic physicians provide a steady flow of new patients for analysis. Since very few laboratories in the United States work on CDG, we are developing new molecular diagnostic methods to handle the increasing number of patients. Increased awareness of CDG in the medical community generated expanded government funding that allies us with 10 medical centers in the US seeking additional patients to study their natural history, develop biomarkers and test emerging therapies. Those avenues along with the help of generous philanthropic support, enables us to extend efforts to supplement the depleted glycosylation pathways in patients.

In this image and film clip above, Harrison Ford poses a few questions for us.

Apr 1, 2025
How basic science fuels economic gain
A recent story in The New York Times describes how new and changed federal policies pose long-term risk to science and the…
Apr 1, 2025
Jan 2, 2025
Hudson Freeze finds life in hot water
Hudson Freeze, PhD, has a starring cameo in Veritasium’s video profile of Kary Mullis, PhD, an American biochemist who shared the 1993 Nobel Prize in…
Jan 2, 2025
Nov 11, 2024
Honoring Hud Freeze and colleagues for literally writing the book on glycobiology
Glycobiology is the study of the structure, biosynthesis and biology of glycans — carbohydrates or sugars that cover the surfaces…
Nov 11, 2024
Mar 28, 2024
At a symposium on rare diseases, smiles were in abundance
Since 2010, we have organized an annual scientific and family conference at Sanford Burnham Prebys that covers multiple rare diseases.
Mar 28, 2024
Mar 7, 2024
Sharing science and stories at Rare Disease Day Symposium
The Sanford Burnham Prebys Rare Disease Day Symposium brought patients, families, physicians, scientists, industry experts and advocates together with a…
Mar 7, 2024
Jan 3, 2024
Hudson Freeze appointed to Distinguished Endowed Chair, thanks to gift from grateful supporter
An endowed chair is among the highest forms of recognition for a faculty member’s research, teaching and service.
Jan 3, 2024

Select Publications

Showing 2 of 2

N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.

Tambe MA, Ng BG, Freeze HH

Cell Rep 2019 Dec 24 ;29(13):4620-4631.e4

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH

Hum Mutat 2019 Jul ;40(7):908-925

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Biography

Research

Recent Bang Lab News

Select Publications

High-throughput screen for compounds that modulate neurite growth of human induced pluripotent stem cell-derived neurons.

Cell-surface markers for the isolation of pancreatic cell types derived from human embryonic stem cells.

Neuronal medium that supports basic synaptic functions and activity of human neurons in vitro.

Biography

Education

Research

Select Publications

Trophinin-mediated cell adhesion induces apoptosis of human endometrial epithelial cells through PKC-δ.

Enhancement of human sperm motility by trophinin binding peptide.

Biography

Research

Recent Snyder Lab News

Select Publications

Probing the lithium-response pathway in hiPSCs implicates the phosphoregulatory set-point for a cytoskeletal modulator in bipolar pathogenesis.

Proof of concept studies exploring the safety and functional activity of human parthenogenetic-derived neural stem cells for the treatment of Parkinson’s disease.

Neural stem cells implanted into MPTP-treated monkeys increase the size of endogenous tyrosine hydroxylase-positive cells found in the striatum: a return to control measures.

Biography

Research

Recent Freeze Lab News

Select Publications

N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.