Concetta Altamura

Concetta Altamura

Department Of Biomedical Sciences And Human Oncology, Università Degli Studi Di Bari Aldo Moro, Policlinico, Piazza Giulio Cesare, 70126, Bari, Italy.

Direct Impact

Concepts for which Concetta Altamura has direct influence:

myotonia congenita
ion channels
skeletal muscle
carbonic anhydrase inhibitors
niflumic acid
cbs2 domain
chloride currents

External impact

Concepts related to the work of other authors for which Concetta Altamura has influence:

myotonia congenita
periodic paralysis
skeletal muscle channelopathies
clc-1 mutation
sodium channel
episodic ataxia
myotonic dystrophy

Prominent publications by Concetta Altamura

KOL-Index: 278 Skeletal muscle ion channelopathies (SMICs) are a large heterogeneous group of rare genetic disorders caused by mutations in genes encoding ion channel subunits in the skeletal muscle mainly characterized by myotonia or periodic paralysis, potentially resulting in long-term disabilities. However, with the development of new molecular technologies, new genes and new phenotypes, including ...
Known for
Rare Genetic Disorders | Long-Term Disabilities | Myotonia Periodic Paralysis | Skeletal Muscle Ion Channelopathies
KOL-Index: 216 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 ...
Known for
Effects Steps | Benefits Cai | Hypokalemic Rct | Precision Muscle
KOL-Index: 51 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 ...
Known for
Inactivation Gate | Channel Blocker | G1306e P1158l | Dependence Mutants
KOL-Index: 49 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 ...
Known for
Channels Art | Clcn1
KOL-Index: 39 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 ...
Known for
Function Clc-1 | Pathophysiological Conditions | Selective Safe Drugs | Secondary Adaptive Mechanism
KOL-Index: 34 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 ...
Known for
Roles Cancer | Contribution Ion | Channels Ovarian | Resistance Apoptosis
KOL-Index: 34 Objective: Myotonia congenita (MC) is a rare muscle disease characterized by sarcolemma over-excitability inducing skeletal muscle stiffness. It can be inherited either as an autosomal dominant (Thomsen's disease) or an autosomal recessive (Becker's disease) trait. Both types are caused by loss-of-function mutations in the CLCN1 gene, encoding for ClC-1 chloride channel. We found a ClC-1 ...
Known for
Beckers | Degradation Rate | Clc-1 Chloride Channel | Sarcolemma Over-Excitability
KOL-Index: 33 The KCNA1 gene encodes the α subunit of the voltage-gated Kv1.1 potassium channel that critically regulates neuronal excitability in the central and peripheral nervous systems. Mutations in KCNA1 have been classically associated with episodic ataxia type 1 (EA1), a movement disorder triggered by physical and emotional stress. Additional features variably reported in recent years include ...
Known for
Central Peripheral Nervous Systems | Neuronal Excitability | Deactivation | Physical Emotional Stress
KOL-Index: 31 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 ...
Known for
Muscle Voltage | Trr | Μm | Mv
KOL-Index: 28 Benzothiazole is a versatile fused heterocycle that aroused much interest in drug discovery as anticonvulsant, neuroprotective, analgesic, anti-inflammatory, antimicrobial, and anticancer. Two benzothiazolamines, riluzole and lubeluzole, are known blockers of voltage-gated sodium (Nav) channels. Riluzole is clinically used as a neuroprotectant in amyotrophic lateral sclerosis. Inhibition of ...
Known for
Neuroprotective Activity | Preferential Binding | Inactivated Channels | Antimyotonic Drug

Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari Aldo Moro, Policlinico, piazza Giulio Cesare, 70126, Bari, Italy.

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