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    • Concetta Altamura
    • Concetta Altamura

      Concetta Altamura

      Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, I-70124 Italy | Section of Pharmacology, Department of Biomedical ...



      KOL Resume for Concetta Altamura


      Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, I-70124 Italy


      Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70121 Bari, Italy;, (C.A.);, (J.-F.D.)

      University of Bari Aldo Moro, Bari, Italy


      Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, Italy.


      Dept. of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro, Bari, Italy.


      Department of Pharmacy – Drug Sciences, University of Bari ‘Aldo Moro’, Bari, Italy


      Section of Pharmacology, Department of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro, Policlinico, Piazza G. Cesare 11, 70124, Bari, Italy


      Department of Pharmacy, Drug Sciences, University of Bari “Aldo Moro,” Bari, Italy;


      Department of Pharmacy - Drug Sciences, University of Bari “Aldo Moro”, Bari, Italy


      Section of Pharmacology, Department of Pharmacy & Drug Sciences, University of Bari-Aldo Moro, Bari, Italy



      Concetta Altamura: Influence Statistics

      Sample of concepts for which Concetta Altamura is among the top experts in the world.
      Concept World rank
      gene mutations opportunities #5
      channelopathies smics #5
      survival smics #5
      smics description #5
      progressive myopathies complexity #5
      opportunities myotonia #5
      regard new advances #5
      pathomechanisms opportunities #5
      inadequate alternative therapy #5
      mutationdependent drug effects #6
      relevant clc1 #6
      preclinical studies mutations #6
      congenital myopathies treatment #6
      clc1 relevant #6
      myotonia contrast #6
      channelopathies systematic #6
      treatment congenital myopathies #6
      clc1 dysfunctions #6
      clc1 channel physiology #6
      activation alternative escape #6
      congenita animals chloride #6
      rct human studies #6
      physiological harmful events #6
      paralysis lamotrigine #6
      muscle ion channelopathies #6
      benefits cai #6
      modifying triggers #6
      benefits mexiletine #6
      hypokalemic rct #6
      chloride clc‐1 #7
      clc1 silico #7
      sarcolemma repolarization #7
      clc1 9ac #7
      art clc1 #7
      r421 f484 #7
      pockets clc #7
      limited clc1 #7
      mimicking myotonia #7
      mc clc1 channels #7
      clc1 blockers #7
      clc1 integrated #7
      clc1 clc2 heterodimers #7
      abnormal membrane excitation #7
      9ac nfa #7
      pockets chloride #7
      nfa r421 #7
      chloride clc‐1 channels #7
      clc1 structure #7
      pockets clc1 #7
      f484 clc1 #7


      Prominent publications by Concetta Altamura

      KOL-Index: 9024

      KEY POINTS: Loss-of-function mutations of the skeletal muscle ClC-1 channel cause myotonia congenita with variable phenotypes. Using patch clamp we show that F484L, located in the conducting pore, probably induces mild dominant myotonia by right-shifting the slow gating of ClC-1 channel, without exerting a dominant-negative effect on the wild-type (WT) subunit. Molecular dynamics simulations suggest that F484L affects the slow gate by increasing the frequency and the stability of H-bond ...

      Known for Myotonia Congenita | Clc1 Channel | Phenotype Correlation | Molecular Dynamics Simulations | Voltage Dependence
      KOL-Index: 8657

      Myotonia congenita (MC) is an inherited muscle disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. Both recessive (Becker's disease) or dominant (Thomsen's disease) MC are caused by mutations in the CLCN1 gene encoding the voltage-dependent chloride ClC-1 channel, which is quite exclusively expressed in skeletal muscle. More than 200 CLCN1 mutations have been associated with MC. We provide herein a detailed clinical, molecular, and ...

      Known for Myotonia Congenita | Clcn1 Mutations | Skeletal Muscle | Recessive Mc | Voltage Dependence
      KOL-Index: 6782

      Myotonia congenita (MC) is caused by loss-of-function mutations of the muscle ClC-1 chloride channel. Clinical manifestations include the variable association of myotonia and transitory weakness. We recently described a cohort of recessive MC patients showing, at a low rate repetitive nerves stimulation protocol, different values of compound muscle action potential (CMAP) transitory depression, which is considered the neurophysiologic counterpart of transitory weakness. From among this ...

      Known for Myotonia Congenita | Functional Characterization | Chloride Currents | Transitory Weakness | Clc1 Mutations
      KOL-Index: 6653

      Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C>G (p.F167L) ...

      Known for Scn4a Mutations | Mutation Myotonia | Sodium Channel | Myotonic Patients | Patch Clamp
      KOL-Index: 5844

      Myotonia congenita is an inherited disease that is characterized by impaired muscle relaxation after contraction caused by loss-of-function mutations in the skeletal muscle ClC-1 channel. We report a novel ClC-1 mutation, T335N, that is associated with a mild phenotype in 1 patient, located in the extracellular I-J loop. The purpose of this study was to provide a solid correlation between T335N dysfunction and clinical symptoms in the affected patient as well as to offer hints for drug ...

      Known for Myotonia Congenita | Ion Channel | Muscle Clc1 | Patch Clamp | Western Blot
      KOL-Index: 5206

      Episodic ataxia type 1 (EA1) is a human dominant neurological syndrome characterized by continuous myokymia, episodic attacks of ataxic gait and spastic contractions of skeletal muscles that can be triggered by emotional stress and fatigue. This rare disease is caused by missense mutations in the KCNA1 gene coding for the neuronal voltage gated potassium channel Kv1.1, which contributes to nerve cell excitability in the cerebellum, hippocampus, cortex and peripheral nervous system. We ...

      Known for Potassium Channel | Peripheral Nervous | Kcna1 Gene | Emotional Stress | Continuous Myokymia
      KOL-Index: 5190

      The antiarrhythmic sodium-channel blocker mexiletine is used to treat patients with myotonia. However, around 30% of patients do not benefit from mexiletine due to poor tolerability or suboptimal response. Safinamide is an add-on therapy to levodopa for Parkinson's disease. In addition to MAOB inhibition, safinamide inhibits neuronal sodium channels, conferring anticonvulsant activity in models of epilepsy. Here, we investigated the effects of safinamide on skeletal muscle hNav1.4 sodium ...

      Known for Skeletal Muscle | Nondystrophic Myotonias | Sodium Channel | Parkinsons Disease | Addon Therapy
      KOL-Index: 4787

      Sodium channel myotonia and paramyotonia congenita are caused by gain-of-function mutations in the skeletal muscle voltage-gated sodium channel hNav1.4. The first-line drug is the sodium channel blocker mexiletine; however, some patients show side effects or limited responses. We previously showed that two hNav1.4 mutations, p.G1306E and p.P1158L, reduce mexiletine potency in vitro, whereas another sodium channel blocker, flecainide, is less sensitive to mutation-induced gating defects. ...

      Known for Sodium Channel | Fast Inactivation | Paramyotonia Congenita | Voltage Gated | Hek293t Cells
      KOL-Index: 4467

      The voltage-dependent ClC-1 chloride channel belongs to the CLC channel/transporter family. It is a homodimer comprising two individual pores which can operate independently or simultaneously according to two gating modes, the fast and the slow gate of the channel. ClC-1 is preferentially expressed in the skeletal muscle fibers where the presence of an efficient Cl(-) homeostasis is crucial for the correct membrane repolarization and propagation of action potential. As a consequence, ...

      Known for Chloride Channels | Skeletal Muscle | Myotonia Congenita | Clcn1 Gene | Channel Clc1
      KOL-Index: 3932

      Myotonia congenita (MC) is a skeletal-muscle hyperexcitability disorder caused by loss-of-function mutations in the ClC-1 chloride channel. Mutations are scattered over the entire sequence of the channel protein, with more than 30 mutations located in the poorly characterized cytosolic C-terminal domain. In this study, we characterized, through patch clamp, seven ClC-1 mutations identified in patients affected by MC of various severities and located in the C-terminal region. The ...

      Known for Myotonia Congenita | Chloride Currents | Mutant Channels | Clinical Phenotypes | Patch Clamp
      KOL-Index: 2941

      In 1970, the study of the pathomechanisms underlying myotonia in muscle fibers isolated from myotonic goats highlighted the importance of chloride conductance for skeletal muscle function; 20 years later, the human ClC-1 chloride channel has been cloned; last year, the crystal structure of human protein has been solved. Over the years, the efforts of many researchers led to significant advances in acknowledging the role of ClC-1 in skeletal muscle physiology and the mechanisms through ...

      Known for Skeletal Muscle | Chloride Channels | Myotonia Congenita | Clc1 Channel
      KOL-Index: 2695

      BACKGROUND: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM), periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital myopathies. The treatment of these diseases is mainly symptomatic, aimed at reducing muscle excitability in NDM or modifying triggers of attacks in PP.

      OBJECTIVE: This systematic review collected the evidences regarding effects of pharmacological treatment on muscle ion channelopathies, focusing on the possible ...

      Known for Skeletal Muscle | Ion Channelopathies | Periodic Paralyses | Sodium Channel | Humans Hypokalemic
      KOL-Index: 2639

      BACKGROUND AND PURPOSE: Although chloride channels are involved in several physiological processes and acquired diseases, the availability of compounds selectively targeting CLC proteins is limited. ClC-1 channels are responsible for sarcolemma repolarization after an action potential in skeletal muscle and have been associated with myotonia congenita and myotonic dystrophy as well as with other muscular physiopathological conditions. To date only a few ClC-1 blockers have been ...

      Known for Chloride Channels | Skeletal Muscle | Myotonia Congenita | Action Potential | Hek293 Cells
      KOL-Index: 2330

      Recent preclinical studies have shown that activation of the serotonin 5-HT7 receptor has the potential to treat neurodevelopmental disorders such as Fragile X syndrome, a rare disease characterized by autistic features. With the aim to provide the scientific community with diversified drug-like 5-HT7 receptor-preferring agonists, we designed a set of new long-chain arylpiperazines by exploiting structural fragments present in clinically approved drugs or in preclinical candidates ...

      Known for Ht7 Receptor | Fragile Syndrome | Serotonin 5 | Neurodevelopmental Disorders | Mouse Model
      KOL-Index: 2301

      Ovarian cancer (OC) is the deadliest gynecologic cancer, due to late diagnosis, development of platinum resistance, and inadequate alternative therapy. It has been demonstrated that membrane ion channels play important roles in cancer processes, including cell proliferation, apoptosis, motility, and invasion. Here, we review the contribution of ion channels in the development and progression of OC, evaluating their potential in clinical management. Increased expression of voltage-gated ...

      Known for Ion Channels | Potential Clinical

      Key People For Ion Channels

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      Concetta Altamura:Expert Impact

      Concepts for whichConcetta Altamurahas direct influence:Ion channels,  Myotonia congenita,  Sodium channel,  Ion channelopathies,  Niflumic acid,  Experimental approach,  Recessive myotonia congenita,  Carbonic anhydrase inhibitors.

      Concetta Altamura:KOL impact

      Concepts related to the work of other authors for whichfor which Concetta Altamura has influence:Myotonia congenita,  Ion channels,  Clcn1 gene,  Skeletal muscle channelopathies,  Neurodevelopmental disorders,  Muscle glycogen,  Sodium channel.



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      Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, I-70124 Italy | Section of Pharmacology, Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo M

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