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  1. Article ; Online: Recent developments in ligands and chemical probes targeting solute carrier transporters.

    Casiraghi, Andrea / Bensimon, Ariel / Superti-Furga, Giulio

    Current opinion in chemical biology

    2021  Volume 62, Page(s) 53–63

    Abstract: Solute carrier (SLC) membrane transporters remain a largely unexploited target class, despite their central roles in cell identity and metabolism. This gap is reflected in the lack of high-quality chemical ligands or probes and in the small number of ... ...

    Abstract Solute carrier (SLC) membrane transporters remain a largely unexploited target class, despite their central roles in cell identity and metabolism. This gap is reflected in the lack of high-quality chemical ligands or probes and in the small number of compounds that have progressed toward clinical development. In this review, we discuss recent advancements in SLC ligand discovery as well as new candidates that have been added to the investigational toolkit, with a particular focus on first-in-class ligands and the cognate discovery strategies. The availability of new probes expands the opportunity to elucidate the functions of SLCs and their relevance in physiology and explores any future potential of SLC druggability.
    MeSH term(s) Antineoplastic Agents/chemistry ; Antineoplastic Agents/metabolism ; Antineoplastic Agents/pharmacology ; Biological Transport/drug effects ; Cell Membrane/metabolism ; Cell Membrane/ultrastructure ; Drug Discovery ; Humans ; Ligands ; Metabolic Diseases ; Neoplasms/drug therapy ; Neurotransmitter Agents/metabolism ; Nutrients/metabolism ; Protein Binding ; Protein Conformation ; Small Molecule Libraries/chemistry ; Small Molecule Libraries/metabolism ; Small Molecule Libraries/pharmacology ; Solute Carrier Proteins/metabolism
    Chemical Substances Antineoplastic Agents ; Ligands ; Neurotransmitter Agents ; Small Molecule Libraries ; Solute Carrier Proteins
    Language English
    Publishing date 2021-03-06
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1439176-4
    ISSN 1879-0402 ; 1367-5931
    ISSN (online) 1879-0402
    ISSN 1367-5931
    DOI 10.1016/j.cbpa.2021.01.012
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4986: Show issues Location:
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  2. Article ; Online: Overweight and obesity in adult patients with phenylketonuria: a systematic review.

    Tankeu, Aurel T / Pavlidou, Despina Christina / Superti-Furga, Andrea / Gariani, Karim / Tran, Christel

    Orphanet journal of rare diseases

    2023  Volume 18, Issue 1, Page(s) 37

    Abstract: Background: Excess weight is a rising concern in patients with phenylketonuria (PKU). It is commonly observed in children and adolescents with PKU; but data on adults are inconsistent. This review aims to summarize available data on excess weight in ... ...

    Abstract Background: Excess weight is a rising concern in patients with phenylketonuria (PKU). It is commonly observed in children and adolescents with PKU; but data on adults are inconsistent. This review aims to summarize available data on excess weight in adult PKU individuals.
    Methods: We conducted a systematic search of literature in English, from inception to October 2021, on PubMed and Embase to identify articles on overweight and obesity in adult PKU patients. Prevalence of overweight and obesity, body mass index (BMI) and gender differences were the outcomes of interest.
    Results: Of 260 articles identified, only 8 fulfilled quality criteria for inclusion after screening of titles, abstracts and full texts. The mean BMI of adult PKU patients in these studies ranged from 26 ± 5.4 to 30.3 ± 1.8 kg/m
    Conclusions: Excess weight is frequent in adult PKU patients, especially in females, even if the difference with the general population is debatable. The heterogeneity of the studies makes it difficult to interpret the results and the factors that contribute to obesity. Content of the diet, psychological status, diet-associated disordered eating, patient's social environment and lifestyle are listed as potentials contributors to excess weight in PKU adult population. Further studies are needed to better elucidate this question. In the meantime, weight control and healthy eating habits should be considered in the management and follow-up of these patients.
    MeSH term(s) Child ; Adolescent ; Humans ; Adult ; Female ; Overweight/psychology ; Obesity/epidemiology ; Phenylketonurias ; Body Mass Index ; Diet
    Language English
    Publishing date 2023-02-22
    Publishing country England
    Document type Systematic Review ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2225857-7
    ISSN 1750-1172 ; 1750-1172
    ISSN (online) 1750-1172
    ISSN 1750-1172
    DOI 10.1186/s13023-023-02636-2
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  3. Article ; Online: A guide to plasma membrane solute carrier proteins.

    Pizzagalli, Mattia D / Bensimon, Ariel / Superti-Furga, Giulio

    The FEBS journal

    2020  Volume 288, Issue 9, Page(s) 2784–2835

    Abstract: This review aims to serve as an introduction to the solute carrier proteins (SLC) superfamily of transporter proteins and their roles in human cells. The SLC superfamily currently includes 458 transport proteins in 65 families that carry a wide variety ... ...

    Abstract This review aims to serve as an introduction to the solute carrier proteins (SLC) superfamily of transporter proteins and their roles in human cells. The SLC superfamily currently includes 458 transport proteins in 65 families that carry a wide variety of substances across cellular membranes. While members of this superfamily are found throughout cellular organelles, this review focuses on transporters expressed at the plasma membrane. At the cell surface, SLC proteins may be viewed as gatekeepers of the cellular milieu, dynamically responding to different metabolic states. With altered metabolism being one of the hallmarks of cancer, we also briefly review the roles that surface SLC proteins play in the development and progression of cancer through their influence on regulating metabolism and environmental conditions.
    MeSH term(s) Biological Transport/genetics ; Cell Membrane/genetics ; Humans ; Membrane Transport Proteins/genetics ; Neoplasms/genetics ; Solute Carrier Proteins/genetics
    Chemical Substances Membrane Transport Proteins ; Solute Carrier Proteins
    Language English
    Publishing date 2020-09-18
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2173655-8
    ISSN 1742-4658 ; 1742-464X
    ISSN (online) 1742-4658
    ISSN 1742-464X
    DOI 10.1111/febs.15531
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 260: Show issues Location:
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  4. Article ; Online: Accelerating SLC Transporter Research: Streamlining Knowledge and Validated Tools.

    Wiedmer, Tabea / Ingles-Prieto, Alvaro / Goldmann, Ulrich / Steppan, Claire M / Superti-Furga, Giulio

    Clinical pharmacology and therapeutics

    2022  Volume 112, Issue 3, Page(s) 439–442

    MeSH term(s) Humans ; Membrane Transport Proteins/genetics ; Solute Carrier Proteins
    Chemical Substances Membrane Transport Proteins ; Solute Carrier Proteins
    Language English
    Publishing date 2022-08-08
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 123793-7
    ISSN 1532-6535 ; 0009-9236
    ISSN (online) 1532-6535
    ISSN 0009-9236
    DOI 10.1002/cpt.2639
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    Zs.A 20: Show issues Location:
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  5. Article ; Online: Significant clinical benefits of molecular studies in the skeletal dysplasias.

    Superti-Furga, Andrea

    American journal of medical genetics. Part A

    2015  Volume 167A, Issue 3, Page(s) 476–477

    MeSH term(s) Collagen Type II/genetics ; Female ; Humans ; Male ; Mutation ; Osteochondrodysplasias/congenital ; Osteochondrodysplasias/diagnostic imaging ; Osteochondrodysplasias/genetics ; Phenotype ; Radiography
    Chemical Substances COL2A1 protein, human ; Collagen Type II
    Language English
    Publishing date 2015-02-17
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.36931
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  6. Article ; Online: Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.

    Royer-Bertrand, Beryl / Lebon, Sébastien / Craig, Ailsa / Maeder, Johanna / Mittaz-Crettol, Laureane / Fodstad, Heidi / Superti-Furga, Andrea / Good, Jean-Marc

    American journal of medical genetics. Part A

    2023  Volume 191, Issue 6, Page(s) 1658–1663

    MeSH term(s) Female ; Child ; Humans ; Paraparesis, Spastic/diagnosis ; Paraparesis, Spastic/genetics ; Mothers ; Developmental Disabilities ; Phenotype ; Spastic Paraplegia, Hereditary ; Transcription Factor 7-Like 2 Protein
    Chemical Substances TCF7L2 protein, human ; Transcription Factor 7-Like 2 Protein
    Language English
    Publishing date 2023-03-10
    Publishing country United States
    Document type Letter
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63173
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    Zs.A 1376/A: Show issues Location:
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  7. Article ; Online: A genome-wide CRISPR functional survey of the human phagocytosis molecular machinery.

    Essletzbichler, Patrick / Sedlyarov, Vitaly / Frommelt, Fabian / Soulat, Didier / Heinz, Leonhard X / Stefanovic, Adrijana / Neumayer, Benedikt / Superti-Furga, Giulio

    Life science alliance

    2023  Volume 6, Issue 4

    Abstract: Phagocytosis, the process by which cells engulf large particles, plays a vital role in driving tissue clearance and host defense. Its dysregulation is connected to autoimmunity, toxic accumulation of proteins, and increased risks for infections. Despite ... ...

    Abstract Phagocytosis, the process by which cells engulf large particles, plays a vital role in driving tissue clearance and host defense. Its dysregulation is connected to autoimmunity, toxic accumulation of proteins, and increased risks for infections. Despite its importance, we lack full understanding of all molecular components involved in the process. To create a functional map in human cells, we performed a genome-wide CRISPRko FACS screen that identified 716 genes. Mapping those hits to a comprehensive protein-protein interaction network annotated for functional cellular processes allowed retrieval of protein complexes identified multiple times and detection of missing phagocytosis regulators. In addition to known components, such as the Arp2/3 complex, the vacuolar-ATPase-Rag machinery, and the Wave-2 complex, we identified and validated new phagocytosis-relevant functions, including the oligosaccharyltransferase complex (MAGT1/SLC58A1, DDOST, STT3B, and RPN2) and the hypusine pathway (eIF5A, DHPS, and DOHH). Overall, our phagocytosis network comprises elements of cargo uptake, shuffling, and biotransformation through the cell, providing a resource for the identification of potential novel drivers for diseases of the endo-lysosomal system. Our approach of integrating protein-protein interaction offers a broadly applicable way to functionally interpret genome-wide screens.
    MeSH term(s) Humans ; Clustered Regularly Interspaced Short Palindromic Repeats/genetics ; Proteins ; Phagocytosis/genetics ; Hexosyltransferases/metabolism ; Proteasome Endopeptidase Complex/metabolism
    Chemical Substances Proteins ; RPN2 protein, human (EC 2.4.99.18) ; Hexosyltransferases (EC 2.4.1.-) ; Proteasome Endopeptidase Complex (EC 3.4.25.1)
    Language English
    Publishing date 2023-02-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2575-1077
    ISSN (online) 2575-1077
    DOI 10.26508/lsa.202201715
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  8. Article ; Online: Genetic disorders of bone - An historical perspective.

    Superti-Furga, Andrea / Unger, Sheila

    Bone

    2017  Volume 102, Page(s) 1–4

    MeSH term(s) Bone Diseases/diagnostic imaging ; Bone Diseases/history ; Bone Diseases/pathology ; Bone Diseases/therapy ; Genetic Diseases, Inborn/diagnostic imaging ; Genetic Diseases, Inborn/history ; Genetic Diseases, Inborn/pathology ; Genetic Diseases, Inborn/therapy ; History, 19th Century ; History, 20th Century ; History, 21st Century ; Humans
    Language English
    Publishing date 2017
    Publishing country United States
    Document type Editorial ; Historical Article
    ZDB-ID 632515-4
    ISSN 1873-2763 ; 8756-3282
    ISSN (online) 1873-2763
    ISSN 8756-3282
    DOI 10.1016/j.bone.2017.07.025
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    Zs.A 1571: Show issues Location:
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    Zs.MO 332: Show issues

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  9. Article ; Online: The multiple faces of artwork diagnoses.

    Benedicenti, Francesco / Superti-Furga, Andrea

    The Lancet. Neurology

    2017  Volume 16, Issue 6, Page(s) 417

    MeSH term(s) Face ; History, 15th Century ; Humans ; Neurofibromatosis 1 ; Paintings/history
    Language English
    Publishing date 2017-05-11
    Publishing country England
    Document type Historical Article ; Letter ; Comment
    ZDB-ID 2079704-7
    ISSN 1474-4465 ; 1474-4422
    ISSN (online) 1474-4465
    ISSN 1474-4422
    DOI 10.1016/S1474-4422(17)30128-X
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  10. Article ; Online: Biotinidase deficiency: What have we learned in forty years?

    Tankeu, Aurel T / Van Winckel, Geraldine / Elmers, Jolanda / Jaccard, Evrim / Superti-Furga, Andrea / Wolf, Barry / Tran, Christel

    Molecular genetics and metabolism

    2023  Volume 138, Issue 4, Page(s) 107560

    Abstract: Background: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder that was first described in 1982. Forty years after its first description, we compiled available clinical data on BD with the aim of generating a more comprehensive ... ...

    Abstract Background: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder that was first described in 1982. Forty years after its first description, we compiled available clinical data on BD with the aim of generating a more comprehensive picture of this condition.
    Methods: A systematic search strategy was performed in relevant databases without limits for publication date or languages. We screened 3966 records and included 144 articles reporting individuals with BD and their clinical presentation as well as the outcomes, when available.
    Results: This study included 1113 individuals with BD. More than half (51.5%) of these individuals were diagnosed by newborn screening, 43.3% in presence of clinical symptoms and 5.2% due to family screening. We grouped symptomatic individuals into four main clinical presentations: neonatal-onset (<1 month; 7.9%), early childhood-onset (<2 years; 59.2%), juvenile-onset (2-16 years; 25.1%) and adult-onset (>16 years; 7.7%). BD affected five main organ systems: nervous system (67.2%), skin (53.7%), eye (34.4%), auditory (26.9%) and respiratory system (17.8%). Involvement was mainly multisystemic (82.2%) of individuals, whereas isolated system presentation was seen in only 17.2% of individuals. When reported, metabolic acidosis was present in 42.4% of symptomatic individuals and characteristic abnormal organic acid metabolites were found in 57.1%. Biotin treatment led to clinical stability or improvement in 89.2% of individuals. 1.6% of reported individuals with BD died due to non-availability of treatment or late diagnosis.
    Conclusion: Newborn screening has had a major positive impact on the outcome of many individuals with BD. However, undiagnosed and non-treated BD remains a health concern. Given the risk of mortality or complications associated with late or missed diagnosis if newborn screening is not available, a trial of biotin should be considered in undiagnosed infants and adults exhibiting suspected clinical signs. Enzymatic activity and/or analysis of genetic variants can readily confirm the diagnosis of BD.
    MeSH term(s) Infant ; Infant, Newborn ; Adult ; Child, Preschool ; Humans ; Biotinidase Deficiency/diagnosis ; Biotinidase Deficiency/genetics ; Biotin/therapeutic use ; Biotinidase/genetics ; Biotinidase/metabolism ; Neonatal Screening ; Databases, Factual
    Chemical Substances Biotin (6SO6U10H04) ; Biotinidase (EC 3.5.1.12)
    Language English
    Publishing date 2023-03-24
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1418518-0
    ISSN 1096-7206 ; 1096-7192
    ISSN (online) 1096-7206
    ISSN 1096-7192
    DOI 10.1016/j.ymgme.2023.107560
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    Zs.A 617: Show issues Location:
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